Canonical Allele Identifier: CA414941488
Gene: SRY HGNC NCBI

Linked Data

dbSNP Id: rs2124486213

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.2787369C>T , CM000686.2:g.2787369C>T GRCh38
NC_000024.9:g.2655410C>T , CM000686.1:g.2655410C>T GRCh37
NC_000024.8:g.2715410C>T NCBI36
NG_011751.1:g.5383G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000679518.1:n.106+12630C>T
ENST00000679825.1:n.481C>T
ENST00000680285.1:n.320-2380C>T
ENST00000680845.1:n.166-111C>T
ENST00000681787.1:n.106+12630C>T
ENST00000681940.1:n.106+12630C>T
ENST00000383070.2:c.235G>A MANE Select ENSP00000372547.1:p.Ala79Thr
ENST00000383070.1:c.235G>A ENSP00000372547.1:p.Ala79Thr
NM_003140.2:c.235G>A NP_003131.1:p.Ala79Thr
NM_003140.3:c.235G>A MANE Select NP_003131.1:p.Ala79Thr