Canonical Allele Identifier: CA414941367
Gene: SRY HGNC NCBI

Linked Data

dbSNP Id: rs2124486114

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.2787315G>A , CM000686.2:g.2787315G>A GRCh38
NC_000024.9:g.2655356G>A , CM000686.1:g.2655356G>A GRCh37
NC_000024.8:g.2715356G>A NCBI36
NG_011751.1:g.5437C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000679518.1:n.106+12576G>A
ENST00000679825.1:n.427G>A
ENST00000680285.1:n.320-2434G>A
ENST00000680845.1:n.166-165G>A
ENST00000681787.1:n.106+12576G>A
ENST00000681940.1:n.106+12576G>A
ENST00000383070.2:c.289C>T MANE Select ENSP00000372547.1:p.Gln97Ter
ENST00000383070.1:c.289C>T ENSP00000372547.1:p.Gln97Ter
NM_003140.2:c.289C>T NP_003131.1:p.Gln97Ter
NM_003140.3:c.289C>T MANE Select NP_003131.1:p.Gln97Ter