Canonical Allele Identifier: CA4961411
Gene: DMRT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2746267
ClinVar RCV Id: RCV003562995
dbSNP Id: rs139583942
gnomAD v2: 9-841866-C-T
gnomAD v3: 9-841866-C-T
gnomAD v4: 9-841866-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.841866C>T , CM000671.2:g.841866C>T GRCh38
NC_000009.11:g.841866C>T , CM000671.1:g.841866C>T GRCh37
NC_000009.10:g.831866C>T NCBI36
NG_009221.1:g.5177C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000382276.8:c.28C>T MANE Select ENSP00000371711.3:p.Pro10Ser
ENST00000382276.7:c.28C>T ENSP00000371711.3:p.Pro10Ser
ENST00000564322.1:n.177C>T
NM_021951.2:c.28C>T NP_068770.2:p.Pro10Ser
XM_006716732.1:c.28C>T XP_006716795.1:p.Pro10Ser
XM_017014375.1:c.28C>T XP_016869864.1:p.Pro10Ser
NM_021951.3:c.28C>T MANE Select NP_068770.2:p.Pro10Ser