Canonical Allele Identifier: CA414941539
Gene: SRY HGNC NCBI

Linked Data

dbSNP Id: rs2124486256

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.2787392G>A , CM000686.2:g.2787392G>A GRCh38
NC_000024.9:g.2655433G>A , CM000686.1:g.2655433G>A GRCh37
NC_000024.8:g.2715433G>A NCBI36
NG_011751.1:g.5360C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000679518.1:n.106+12653G>A
ENST00000679825.1:n.504G>A
ENST00000680285.1:n.320-2357G>A
ENST00000680845.1:n.166-88G>A
ENST00000681787.1:n.106+12653G>A
ENST00000681940.1:n.106+12653G>A
ENST00000383070.2:c.212C>T MANE Select ENSP00000372547.1:p.Ser71Phe
ENST00000383070.1:c.212C>T ENSP00000372547.1:p.Ser71Phe
NM_003140.2:c.212C>T NP_003131.1:p.Ser71Phe
NM_003140.3:c.212C>T MANE Select NP_003131.1:p.Ser71Phe