Canonical Allele Identifier: CA8958130

Gene: DYM

Linked Data

• ClinVar Variation Id: 326895
• ClinVar RCV Id: RCV000354205 ; RCV000402920 ; RCV003765893
• dbSNP Id: rs374105000
• ExAC: 18:46798536 A / G
• gnomAD v2: 18-46798536-A-G
• gnomAD v3: 18-49272166-A-G
• gnomAD v4: 18-49272166-A-G
• MyVariant Identifiers: chr18:g.46798536A>G (hg19) ; chr18:g.49272166A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.49272166A>G , CM000680.2:g.49272166A>G	GRCh38
NC_000018.9:g.46798536A>G , CM000680.1:g.46798536A>G	GRCh37
NC_000018.8:g.45052534A>G	NCBI36
NG_009239.1:g.193544T>C
NG_009239.2:g.193568T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000675505.1:c.1251+12T>C MANE Select	ENSP00000501694.1:n.1251+12T>C
ENST00000269445.10:c.1251+12T>C	ENSP00000269445.6:n.1251+12T>C
ENST00000442713.6:c.681+12T>C	ENSP00000395942.2:n.681+12T>C
NM_017653.3:c.1251+12T>C	NP_060123.3:n.1251+12T>C
XM_006722488.2:c.1251+12T>C	XP_006722551.1:n.1251+12T>C
XM_006722490.2:c.1251+12T>C	XP_006722553.1:n.1251+12T>C
XM_006722491.1:c.1251+12T>C	XP_006722554.1:n.1251+12T>C
XM_006722492.2:c.1251+12T>C	XP_006722555.1:n.1251+12T>C
XM_011526036.1:c.1251+12T>C	XP_011524338.1:n.1251+12T>C
XM_011526037.1:c.1248+12T>C	XP_011524339.1:n.1248+12T>C
XM_011526038.1:c.1248+12T>C	XP_011524340.1:n.1248+12T>C
XM_011526039.1:c.1251+12T>C	XP_011524341.1:n.1251+12T>C
XM_011526040.1:c.1083+12T>C	XP_011524342.1:n.1083+12T>C
XM_011526041.1:c.1251+12T>C	XP_011524343.1:n.1251+12T>C
XM_011526042.1:c.1251+12T>C	XP_011524344.1:n.1251+12T>C
XM_011526043.1:c.1251+12T>C	XP_011524345.1:n.1251+12T>C
NM_001353210.1:c.1248+12T>C	NP_001340139.1:n.1248+12T>C
NM_001353211.1:c.1248+12T>C	NP_001340140.1:n.1248+12T>C
NM_001353212.1:c.1248+12T>C	NP_001340141.1:n.1248+12T>C
NM_001353213.1:c.1248+12T>C	NP_001340142.1:n.1248+12T>C
NM_001353214.1:c.1251+12T>C	NP_001340143.1:n.1251+12T>C
NM_001353215.1:c.1251+12T>C	NP_001340144.1:n.1251+12T>C
NM_001353216.1:c.1251+12T>C	NP_001340145.1:n.1251+12T>C
NM_017653.4:c.1251+12T>C	NP_060123.3:n.1251+12T>C
XM_006722488.3:c.1251+12T>C	XP_006722551.1:n.1251+12T>C
XM_006722492.4:c.1251+12T>C	XP_006722555.1:n.1251+12T>C
XM_011526036.2:c.1251+12T>C	XP_011524338.1:n.1251+12T>C
XM_011526038.2:c.1248+12T>C	XP_011524340.1:n.1248+12T>C
XM_011526039.2:c.1251+12T>C	XP_011524341.1:n.1251+12T>C
XM_011526041.2:c.1251+12T>C	XP_011524343.1:n.1251+12T>C
XM_011526042.2:c.1251+12T>C	XP_011524344.1:n.1251+12T>C
XM_017025795.1:c.1245+12T>C	XP_016881284.1:n.1245+12T>C
XM_017025796.2:c.1071+12T>C	XP_016881285.1:n.1071+12T>C
XM_017025800.2:c.1248+12T>C	XP_016881289.1:n.1248+12T>C
XM_017025801.1:c.1245+12T>C	XP_016881290.1:n.1245+12T>C
XR_002958177.1:n.1608+12T>C
NM_001353210.3:c.1248+12T>C	NP_001340139.1:n.1248+12T>C
NM_001353211.3:c.1248+12T>C	NP_001340140.1:n.1248+12T>C
NM_001353212.3:c.1248+12T>C	NP_001340141.1:n.1248+12T>C
NM_001353213.3:c.1248+12T>C	NP_001340142.1:n.1248+12T>C
NM_001353214.3:c.1251+12T>C MANE Select	NP_001340143.1:n.1251+12T>C
NM_001353215.3:c.1251+12T>C	NP_001340144.1:n.1251+12T>C
NM_001353216.3:c.1251+12T>C	NP_001340145.1:n.1251+12T>C
NM_001374428.1:c.1251+12T>C	NP_001361357.1:n.1251+12T>C
NM_001374429.1:c.1245+12T>C	NP_001361358.1:n.1245+12T>C
NM_001374430.1:c.1251+12T>C	NP_001361359.1:n.1251+12T>C
NM_001374431.1:c.1251+12T>C	NP_001361360.1:n.1251+12T>C
NM_001374432.1:c.1125+12T>C	NP_001361361.1:n.1125+12T>C
NM_001374433.1:c.1251+12T>C	NP_001361362.1:n.1251+12T>C
NM_001374434.1:c.1251+12T>C	NP_001361363.1:n.1251+12T>C
NM_001374435.1:c.1248+12T>C	NP_001361364.1:n.1248+12T>C
NM_001374436.1:c.1125+12T>C	NP_001361365.1:n.1125+12T>C
NM_001374437.1:c.1068+12T>C	NP_001361366.1:n.1068+12T>C
NM_001374438.1:c.1248+12T>C	NP_001361367.1:n.1248+12T>C
NM_001374439.1:c.1245+12T>C	NP_001361368.1:n.1245+12T>C
NM_001374440.1:c.1023+12T>C	NP_001361369.1:n.1023+12T>C
NM_001374441.1:c.681+12T>C	NP_001361370.1:n.681+12T>C
NM_001374442.1:c.681+12T>C	NP_001361371.1:n.681+12T>C
NM_001374443.1:c.678+12T>C	NP_001361372.1:n.678+12T>C
NM_001374444.1:c.681+12T>C	NP_001361373.1:n.681+12T>C
NM_017653.6:c.1251+12T>C	NP_060123.3:n.1251+12T>C