Canonical Allele Identifier: CA414941256
Gene: SRY HGNC NCBI

Linked Data

dbSNP Id: rs2124486020

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.2787270C>T , CM000686.2:g.2787270C>T GRCh38
NC_000024.9:g.2655311C>T , CM000686.1:g.2655311C>T GRCh37
NC_000024.8:g.2715311C>T NCBI36
NG_011751.1:g.5482G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000679518.1:n.106+12531C>T
ENST00000679825.1:n.382C>T
ENST00000680285.1:n.320-2479C>T
ENST00000680845.1:n.166-210C>T
ENST00000681787.1:n.106+12531C>T
ENST00000681940.1:n.106+12531C>T
ENST00000383070.2:c.334G>A MANE Select ENSP00000372547.1:p.Glu112Lys
ENST00000383070.1:c.334G>A ENSP00000372547.1:p.Glu112Lys
NM_003140.2:c.334G>A NP_003131.1:p.Glu112Lys
NM_003140.3:c.334G>A MANE Select NP_003131.1:p.Glu112Lys