Canonical Allele Identifier: CA414941347
Gene: SRY HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.2787308T>A , CM000686.2:g.2787308T>A GRCh38
NC_000024.9:g.2655349T>A , CM000686.1:g.2655349T>A GRCh37
NC_000024.8:g.2715349T>A NCBI36
NG_011751.1:g.5444A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000679518.1:n.106+12569T>A
ENST00000679825.1:n.420T>A
ENST00000680285.1:n.320-2441T>A
ENST00000680845.1:n.166-172T>A
ENST00000681787.1:n.106+12569T>A
ENST00000681940.1:n.106+12569T>A
ENST00000383070.2:c.296A>T MANE Select ENSP00000372547.1:p.Lys99Ile
ENST00000383070.1:c.296A>T ENSP00000372547.1:p.Lys99Ile
NM_003140.2:c.296A>T NP_003131.1:p.Lys99Ile
NM_003140.3:c.296A>T MANE Select NP_003131.1:p.Lys99Ile