Canonical Allele Identifier: CA5013017
Gene: DMRTA1 HGNC NCBI
ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v4:
MyVariant.info:

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.22451800A>G , CM000671.2:g.22451800A>G GRCh38
NC_000009.11:g.22451799A>G , CM000671.1:g.22451799A>G GRCh37
NC_000009.10:g.22441799A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000325870.3:c.1404A>G MANE Select ENSP00000319651.1:p.Pro468=
ENST00000325870.2:c.1404A>G ENSP00000319651.1:p.Pro468=
NM_022160.2:c.1404A>G NP_071443.2:p.Pro468=
NM_022160.3:c.1404A>G MANE Select NP_071443.2:p.Pro468=