Canonical Allele Identifier: CA503936277

Gene: DYM

Linked Data

• MyVariant Identifiers: chr18:g.46645141A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.49118771A>G , CM000680.2:g.49118771A>G	GRCh38
NC_000018.9:g.46645141A>G , CM000680.1:g.46645141A>G	GRCh37
NC_000018.8:g.44899139A>G	NCBI36
NG_009239.1:g.346939T>C
NG_009239.2:g.346963T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000675505.1:c.1884T>C MANE Select	ENSP00000501694.1:p.Phe628=
ENST00000269445.10:c.1719T>C	ENSP00000269445.6:p.Phe573=
ENST00000442713.6:c.1149T>C	ENSP00000395942.2:p.Phe383=
NM_017653.3:c.1719T>C	NP_060123.3:p.Phe573=
XM_006722488.2:c.1719T>C	XP_006722551.1:p.Phe573=
XM_006722490.2:c.1719T>C	XP_006722553.1:p.Phe573=
XM_011526036.1:c.1719T>C	XP_011524338.1:p.Phe573=
XM_011526037.1:c.1716T>C	XP_011524339.1:p.Phe572=
XM_011526038.1:c.1716T>C	XP_011524340.1:p.Phe572=
XM_011526039.1:c.1719T>C	XP_011524341.1:p.Phe573=
XM_011526040.1:c.1551T>C	XP_011524342.1:p.Phe517=
XM_011526041.1:c.1564-21256T>C	XP_011524343.1:n.1564-21256T>C
XM_011526042.1:c.1719T>C	XP_011524344.1:p.Phe573=
XM_011526043.1:c.1719T>C	XP_011524345.1:p.Phe573=
NM_001353210.1:c.1716T>C	NP_001340139.1:p.Phe572=
NM_001353211.1:c.1716T>C	NP_001340140.1:p.Phe572=
NM_001353212.1:c.1881T>C	NP_001340141.1:p.Phe627=
NM_001353213.1:c.1881T>C	NP_001340142.1:p.Phe627=
NM_001353214.1:c.1884T>C	NP_001340143.1:p.Phe628=
NM_001353215.1:c.1729-21256T>C	NP_001340144.1:n.1729-21256T>C
NM_001353216.1:c.1564-21256T>C	NP_001340145.1:n.1564-21256T>C
NM_017653.4:c.1719T>C	NP_060123.3:p.Phe573=
XM_006722488.3:c.1719T>C	XP_006722551.1:p.Phe573=
XM_011526036.2:c.1719T>C	XP_011524338.1:p.Phe573=
XM_011526038.2:c.1716T>C	XP_011524340.1:p.Phe572=
XM_011526039.2:c.1719T>C	XP_011524341.1:p.Phe573=
XM_011526041.2:c.1564-21256T>C	XP_011524343.1:n.1564-21256T>C
XM_011526042.2:c.1719T>C	XP_011524344.1:p.Phe573=
XM_017025795.1:c.1713T>C	XP_016881284.1:p.Phe571=
XM_017025796.2:c.1539T>C	XP_016881285.1:p.Phe513=
XM_017025800.2:c.1561-21256T>C	XP_016881289.1:n.1561-21256T>C
XM_017025801.1:c.1558-21256T>C	XP_016881290.1:n.1558-21256T>C
XR_002958177.1:n.2076T>C
NM_001353210.3:c.1716T>C	NP_001340139.1:p.Phe572=
NM_001353211.3:c.1716T>C	NP_001340140.1:p.Phe572=
NM_001353212.3:c.1881T>C	NP_001340141.1:p.Phe627=
NM_001353213.3:c.1881T>C	NP_001340142.1:p.Phe627=
NM_001353214.3:c.1884T>C MANE Select	NP_001340143.1:p.Phe628=
NM_001353215.3:c.1729-21256T>C	NP_001340144.1:n.1729-21256T>C
NM_001353216.3:c.1564-21256T>C	NP_001340145.1:n.1564-21256T>C
NM_001374428.1:c.1884T>C	NP_001361357.1:p.Phe628=
NM_001374429.1:c.1878T>C	NP_001361358.1:p.Phe626=
NM_001374430.1:c.1884T>C	NP_001361359.1:p.Phe628=
NM_001374431.1:c.1884T>C	NP_001361360.1:p.Phe628=
NM_001374432.1:c.1758T>C	NP_001361361.1:p.Phe586=
NM_001374433.1:c.1719T>C	NP_001361362.1:p.Phe573=
NM_001374434.1:c.1719T>C	NP_001361363.1:p.Phe573=
NM_001374435.1:c.1716T>C	NP_001361364.1:p.Phe572=
NM_001374436.1:c.1593T>C	NP_001361365.1:p.Phe531=
NM_001374437.1:c.1536T>C	NP_001361366.1:p.Phe512=
NM_001374438.1:c.1561-21256T>C	NP_001361367.1:n.1561-21256T>C
NM_001374439.1:c.1558-21256T>C	NP_001361368.1:n.1558-21256T>C
NM_001374440.1:c.1491T>C	NP_001361369.1:p.Phe497=
NM_001374441.1:c.1314T>C	NP_001361370.1:p.Phe438=
NM_001374442.1:c.1149T>C	NP_001361371.1:p.Phe383=
NM_001374443.1:c.1146T>C	NP_001361372.1:p.Phe382=
NM_001374444.1:c.994-21256T>C	NP_001361373.1:n.994-21256T>C
NM_017653.6:c.1719T>C	NP_060123.3:p.Phe573=