Canonical Allele Identifier: CA414941541
Gene: SRY HGNC NCBI

Linked Data

ClinVar Variation Id: 1470948
ClinVar RCV Id: RCV001964433
dbSNP Id: rs2124486256

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000679518.1:n.106+12653G>T
ENST00000679825.1:n.504G>T
ENST00000680285.1:n.320-2357G>T
ENST00000680845.1:n.166-88G>T
ENST00000681787.1:n.106+12653G>T
ENST00000681940.1:n.106+12653G>T
ENST00000383070.2:c.212C>A MANE Select ENSP00000372547.1:p.Ser71Tyr
ENST00000383070.1:c.212C>A ENSP00000372547.1:p.Ser71Tyr
NM_003140.2:c.212C>A NP_003131.1:p.Ser71Tyr
NM_003140.3:c.212C>A MANE Select NP_003131.1:p.Ser71Tyr