Canonical Allele Identifier: CA414941353
Gene: SRY HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.2787310C>A , CM000686.2:g.2787310C>A GRCh38
NC_000024.9:g.2655351C>A , CM000686.1:g.2655351C>A GRCh37
NC_000024.8:g.2715351C>A NCBI36
NG_011751.1:g.5442G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000679518.1:n.106+12571C>A
ENST00000679825.1:n.422C>A
ENST00000680285.1:n.320-2439C>A
ENST00000680845.1:n.166-170C>A
ENST00000681787.1:n.106+12571C>A
ENST00000681940.1:n.106+12571C>A
ENST00000383070.2:c.294G>T MANE Select ENSP00000372547.1:p.Trp98Cys
ENST00000383070.1:c.294G>T ENSP00000372547.1:p.Trp98Cys
NM_003140.2:c.294G>T NP_003131.1:p.Trp98Cys
NM_003140.3:c.294G>T MANE Select NP_003131.1:p.Trp98Cys