Canonical Allele Identifier: CA236000
Gene: DYM HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 191094
ClinVar RCV Id: RCV000171274
dbSNP Id: rs148059981

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.49363233C>T , CM000680.2:g.49363233C>T GRCh38
NC_000018.8:g.45143601C>T NCBI36
NC_000018.9:g.46889603C>T , CM000680.1:g.46889603C>T GRCh37
NG_009239.1:g.102477G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000269445.10:c.422G>A ENSP00000269445.6:p.Ser141Asn
ENST00000418472.6:c.*24G>A ENSP00000415292.2:p.=
ENST00000442713.6:c.193+28360G>A ENSP00000395942.2:p.=
ENST00000578396.1:c.-44G>A ENSP00000463892.1:p.=
ENST00000578596.5:n.546G>A
ENST00000581738.5:c.-44G>A ENSP00000464183.1:p.=
ENST00000583225.5:c.-44G>A ENSP00000464653.1:p.=
ENST00000583280.5:c.-44G>A ENSP00000462466.1:p.=
ENST00000584983.5:c.-44G>A ENSP00000461989.1:p.=
NM_017653.3:c.422G>A NP_060123.3:p.Ser141Asn
XM_006722488.2:c.422G>A XP_006722551.1:p.Ser141Asn
XM_006722490.2:c.422G>A XP_006722553.1:p.Ser141Asn
XM_006722491.1:c.422G>A XP_006722554.1:p.Ser141Asn
XM_006722492.2:c.422G>A XP_006722555.1:p.Ser141Asn
XM_011526036.1:c.422G>A XP_011524338.1:p.Ser141Asn
XM_011526037.1:c.419G>A XP_011524339.1:p.Ser140Asn
XM_011526038.1:c.422G>A XP_011524340.1:p.Ser141Asn
XM_011526039.1:c.422G>A XP_011524341.1:p.Ser141Asn
XM_011526040.1:c.254G>A XP_011524342.1:p.Ser85Asn
XM_011526041.1:c.422G>A XP_011524343.1:p.Ser141Asn
XM_011526042.1:c.422G>A XP_011524344.1:p.Ser141Asn
XM_011526043.1:c.422G>A XP_011524345.1:p.Ser141Asn