Canonical Allele Identifier: CA414940751
Gene: SRY HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.2787055T>A , CM000686.2:g.2787055T>A GRCh38
NC_000024.9:g.2655096T>A , CM000686.1:g.2655096T>A GRCh37
NC_000024.8:g.2715096T>A NCBI36
NG_011751.1:g.5697A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000679518.1:n.106+12316T>A
ENST00000679825.1:n.167T>A
ENST00000680285.1:n.320-2694T>A
ENST00000680845.1:n.165+2T>A
ENST00000681787.1:n.106+12316T>A
ENST00000681940.1:n.106+12316T>A
ENST00000383070.2:c.549A>T MANE Select ENSP00000372547.1:p.Leu183Phe
ENST00000383070.1:c.549A>T ENSP00000372547.1:p.Leu183Phe
NM_003140.2:c.549A>T NP_003131.1:p.Leu183Phe
NM_003140.3:c.549A>T MANE Select NP_003131.1:p.Leu183Phe