Canonical Allele Identifier: CA414941265
Gene: SRY HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.2787273G>T , CM000686.2:g.2787273G>T GRCh38
NC_000024.9:g.2655314G>T , CM000686.1:g.2655314G>T GRCh37
NC_000024.8:g.2715314G>T NCBI36
NG_011751.1:g.5479C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000679518.1:n.106+12534G>T
ENST00000679825.1:n.385G>T
ENST00000680285.1:n.320-2476G>T
ENST00000680845.1:n.166-207G>T
ENST00000681787.1:n.106+12534G>T
ENST00000681940.1:n.106+12534G>T
ENST00000383070.2:c.331C>A MANE Select ENSP00000372547.1:p.Gln111Lys
ENST00000383070.1:c.331C>A ENSP00000372547.1:p.Gln111Lys
NM_003140.2:c.331C>A NP_003131.1:p.Gln111Lys
NM_003140.3:c.331C>A MANE Select NP_003131.1:p.Gln111Lys