Canonical Allele Identifier: CA414940927
Gene: SRY HGNC NCBI

Linked Data

dbSNP Id: rs2124485712

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.2787128A>T , CM000686.2:g.2787128A>T GRCh38
NC_000024.9:g.2655169A>T , CM000686.1:g.2655169A>T GRCh37
NC_000024.8:g.2715169A>T NCBI36
NG_011751.1:g.5624T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000679518.1:n.106+12389A>T
ENST00000679825.1:n.240A>T
ENST00000680285.1:n.320-2621A>T
ENST00000680845.1:n.165+75A>T
ENST00000681787.1:n.106+12389A>T
ENST00000681940.1:n.106+12389A>T
ENST00000383070.2:c.476T>A MANE Select ENSP00000372547.1:p.Leu159Gln
ENST00000383070.1:c.476T>A ENSP00000372547.1:p.Leu159Gln
NM_003140.2:c.476T>A NP_003131.1:p.Leu159Gln
NM_003140.3:c.476T>A MANE Select NP_003131.1:p.Leu159Gln