Canonical Allele Identifier: CA414941090
Gene: SRY HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.2787200G>A , CM000686.2:g.2787200G>A GRCh38
NC_000024.9:g.2655241G>A , CM000686.1:g.2655241G>A GRCh37
NC_000024.8:g.2715241G>A NCBI36
NG_011751.1:g.5552C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000679518.1:n.106+12461G>A
ENST00000679825.1:n.312G>A
ENST00000680285.1:n.320-2549G>A
ENST00000680845.1:n.165+147G>A
ENST00000681787.1:n.106+12461G>A
ENST00000681940.1:n.106+12461G>A
ENST00000383070.2:c.404C>T MANE Select ENSP00000372547.1:p.Ala135Val
ENST00000383070.1:c.404C>T ENSP00000372547.1:p.Ala135Val
NM_003140.2:c.404C>T NP_003131.1:p.Ala135Val
NM_003140.3:c.404C>T MANE Select NP_003131.1:p.Ala135Val