Canonical Allele Identifier: CA414941210
Gene: SRY HGNC NCBI

Linked Data

dbSNP Id: rs2124485973

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.2787251G>T , CM000686.2:g.2787251G>T GRCh38
NC_000024.9:g.2655292G>T , CM000686.1:g.2655292G>T GRCh37
NC_000024.8:g.2715292G>T NCBI36
NG_011751.1:g.5501C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000679518.1:n.106+12512G>T
ENST00000679825.1:n.363G>T
ENST00000680285.1:n.320-2498G>T
ENST00000680845.1:n.165+198G>T
ENST00000681787.1:n.106+12512G>T
ENST00000681940.1:n.106+12512G>T
ENST00000383070.2:c.353C>A MANE Select ENSP00000372547.1:p.Ala118Asp
ENST00000383070.1:c.353C>A ENSP00000372547.1:p.Ala118Asp
NM_003140.2:c.353C>A NP_003131.1:p.Ala118Asp
NM_003140.3:c.353C>A MANE Select NP_003131.1:p.Ala118Asp