Canonical Allele Identifier: CA254878

Gene: SRY

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.2787330T>A , CM000686.2:g.2787330T>A	GRCh38
NC_000024.9:g.2655371T>A , CM000686.1:g.2655371T>A	GRCh37
NC_000024.8:g.2715371T>A	NCBI36
NG_011751.1:g.5422A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_003140.3:c.274A>T MANE Select	NP_003131.1:p.Lys92Ter
ENST00000383070.2:c.274A>T MANE Select	ENSP00000372547.1:p.Lys92Ter
NM_003140.2:c.274A>T	NP_003131.1:p.Lys92Ter
ENST00000383070.1:c.274A>T	ENSP00000372547.1:p.Lys92Ter
ENST00000679518.1:n.106+12591T>A
ENST00000679825.1:n.442T>A
ENST00000680285.1:n.320-2419T>A
ENST00000680845.1:n.166-150T>A
ENST00000681787.1:n.106+12591T>A
ENST00000681940.1:n.106+12591T>A