Canonical Allele Identifier: CA414941008
Gene: SRY HGNC NCBI

Linked Data

dbSNP Id: rs2124485773

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.2787165C>G , CM000686.2:g.2787165C>G GRCh38
NC_000024.9:g.2655206C>G , CM000686.1:g.2655206C>G GRCh37
NC_000024.8:g.2715206C>G NCBI36
NG_011751.1:g.5587G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000679518.1:n.106+12426C>G
ENST00000679825.1:n.277C>G
ENST00000680285.1:n.320-2584C>G
ENST00000680845.1:n.165+112C>G
ENST00000681787.1:n.106+12426C>G
ENST00000681940.1:n.106+12426C>G
ENST00000383070.2:c.439G>C MANE Select ENSP00000372547.1:p.Ala147Pro
ENST00000383070.1:c.439G>C ENSP00000372547.1:p.Ala147Pro
NM_003140.2:c.439G>C NP_003131.1:p.Ala147Pro
NM_003140.3:c.439G>C MANE Select NP_003131.1:p.Ala147Pro