Canonical Allele Identifier: CA402507242

Gene: DYM

Linked Data

• dbSNP Id: rs2082139382
• gnomAD v4: 18-49118871-T-C
• MyVariant Identifiers: chr18:g.46645241T>C (hg19) ; chr18:g.49118871T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.49118871T>C , CM000680.2:g.49118871T>C	GRCh38
NC_000018.9:g.46645241T>C , CM000680.1:g.46645241T>C	GRCh37
NC_000018.8:g.44899239T>C	NCBI36
NG_009239.1:g.346839A>G
NG_009239.2:g.346863A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000675505.1:c.1784A>G MANE Select	ENSP00000501694.1:p.Asn595Ser
ENST00000269445.10:c.1619A>G	ENSP00000269445.6:p.Asn540Ser
ENST00000442713.6:c.1049A>G	ENSP00000395942.2:p.Asn350Ser
NM_017653.3:c.1619A>G	NP_060123.3:p.Asn540Ser
XM_006722488.2:c.1619A>G	XP_006722551.1:p.Asn540Ser
XM_006722490.2:c.1619A>G	XP_006722553.1:p.Asn540Ser
XM_011526036.1:c.1619A>G	XP_011524338.1:p.Asn540Ser
XM_011526037.1:c.1616A>G	XP_011524339.1:p.Asn539Ser
XM_011526038.1:c.1616A>G	XP_011524340.1:p.Asn539Ser
XM_011526039.1:c.1619A>G	XP_011524341.1:p.Asn540Ser
XM_011526040.1:c.1451A>G	XP_011524342.1:p.Asn484Ser
XM_011526041.1:c.1564-21356A>G	XP_011524343.1:n.1564-21356A>G
XM_011526042.1:c.1619A>G	XP_011524344.1:p.Asn540Ser
XM_011526043.1:c.1619A>G	XP_011524345.1:p.Asn540Ser
NM_001353210.1:c.1616A>G	NP_001340139.1:p.Asn539Ser
NM_001353211.1:c.1616A>G	NP_001340140.1:p.Asn539Ser
NM_001353212.1:c.1781A>G	NP_001340141.1:p.Asn594Ser
NM_001353213.1:c.1781A>G	NP_001340142.1:p.Asn594Ser
NM_001353214.1:c.1784A>G	NP_001340143.1:p.Asn595Ser
NM_001353215.1:c.1729-21356A>G	NP_001340144.1:n.1729-21356A>G
NM_001353216.1:c.1564-21356A>G	NP_001340145.1:n.1564-21356A>G
NM_017653.4:c.1619A>G	NP_060123.3:p.Asn540Ser
XM_006722488.3:c.1619A>G	XP_006722551.1:p.Asn540Ser
XM_011526036.2:c.1619A>G	XP_011524338.1:p.Asn540Ser
XM_011526038.2:c.1616A>G	XP_011524340.1:p.Asn539Ser
XM_011526039.2:c.1619A>G	XP_011524341.1:p.Asn540Ser
XM_011526041.2:c.1564-21356A>G	XP_011524343.1:n.1564-21356A>G
XM_011526042.2:c.1619A>G	XP_011524344.1:p.Asn540Ser
XM_017025795.1:c.1613A>G	XP_016881284.1:p.Asn538Ser
XM_017025796.2:c.1439A>G	XP_016881285.1:p.Asn480Ser
XM_017025800.2:c.1561-21356A>G	XP_016881289.1:n.1561-21356A>G
XM_017025801.1:c.1558-21356A>G	XP_016881290.1:n.1558-21356A>G
XR_002958177.1:n.1976A>G
NM_001353210.3:c.1616A>G	NP_001340139.1:p.Asn539Ser
NM_001353211.3:c.1616A>G	NP_001340140.1:p.Asn539Ser
NM_001353212.3:c.1781A>G	NP_001340141.1:p.Asn594Ser
NM_001353213.3:c.1781A>G	NP_001340142.1:p.Asn594Ser
NM_001353214.3:c.1784A>G MANE Select	NP_001340143.1:p.Asn595Ser
NM_001353215.3:c.1729-21356A>G	NP_001340144.1:n.1729-21356A>G
NM_001353216.3:c.1564-21356A>G	NP_001340145.1:n.1564-21356A>G
NM_001374428.1:c.1784A>G	NP_001361357.1:p.Asn595Ser
NM_001374429.1:c.1778A>G	NP_001361358.1:p.Asn593Ser
NM_001374430.1:c.1784A>G	NP_001361359.1:p.Asn595Ser
NM_001374431.1:c.1784A>G	NP_001361360.1:p.Asn595Ser
NM_001374432.1:c.1658A>G	NP_001361361.1:p.Asn553Ser
NM_001374433.1:c.1619A>G	NP_001361362.1:p.Asn540Ser
NM_001374434.1:c.1619A>G	NP_001361363.1:p.Asn540Ser
NM_001374435.1:c.1616A>G	NP_001361364.1:p.Asn539Ser
NM_001374436.1:c.1493A>G	NP_001361365.1:p.Asn498Ser
NM_001374437.1:c.1436A>G	NP_001361366.1:p.Asn479Ser
NM_001374438.1:c.1561-21356A>G	NP_001361367.1:n.1561-21356A>G
NM_001374439.1:c.1558-21356A>G	NP_001361368.1:n.1558-21356A>G
NM_001374440.1:c.1391A>G	NP_001361369.1:p.Asn464Ser
NM_001374441.1:c.1214A>G	NP_001361370.1:p.Asn405Ser
NM_001374442.1:c.1049A>G	NP_001361371.1:p.Asn350Ser
NM_001374443.1:c.1046A>G	NP_001361372.1:p.Asn349Ser
NM_001374444.1:c.994-21356A>G	NP_001361373.1:n.994-21356A>G
NM_017653.6:c.1619A>G	NP_060123.3:p.Asn540Ser