Canonical Allele Identifier: CA2579746173
Gene: SRY HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.2786956G>T , CM000686.2:g.2786956G>T GRCh38
NC_000024.9:g.2654997G>T , CM000686.1:g.2654997G>T GRCh37
NC_000024.8:g.2714997G>T NCBI36
NG_011751.1:g.5796C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000679518.1:n.106+12217G>T
ENST00000679825.1:n.107-39G>T
ENST00000680285.1:n.320-2793G>T
ENST00000680845.1:n.107-39G>T
ENST00000681787.1:n.106+12217G>T
ENST00000681940.1:n.106+12217G>T
ENST00000383070.2:c.*33C>A MANE Select ENSP00000372547.1:n.*33C>A
ENST00000383070.1:c.*33C>A ENSP00000372547.1:n.*33C>A
NM_003140.2:c.*33C>A NP_003131.1:n.*33C>A
NM_003140.3:c.*33C>A MANE Select NP_003131.1:n.*33C>A