Canonical Allele Identifier: CA414941294
Gene: SRY HGNC NCBI

Linked Data

dbSNP Id: rs2124486052

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.2787285A>T , CM000686.2:g.2787285A>T GRCh38
NC_000024.9:g.2655326A>T , CM000686.1:g.2655326A>T GRCh37
NC_000024.8:g.2715326A>T NCBI36
NG_011751.1:g.5467T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000679518.1:n.106+12546A>T
ENST00000679825.1:n.397A>T
ENST00000680285.1:n.320-2464A>T
ENST00000680845.1:n.166-195A>T
ENST00000681787.1:n.106+12546A>T
ENST00000681940.1:n.106+12546A>T
ENST00000383070.2:c.319T>A MANE Select ENSP00000372547.1:p.Trp107Arg
ENST00000383070.1:c.319T>A ENSP00000372547.1:p.Trp107Arg
NM_003140.2:c.319T>A NP_003131.1:p.Trp107Arg
NM_003140.3:c.319T>A MANE Select NP_003131.1:p.Trp107Arg