Canonical Allele Identifier: CA414941263

Gene: SRY

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.2787273G>A , CM000686.2:g.2787273G>A	GRCh38
NC_000024.9:g.2655314G>A , CM000686.1:g.2655314G>A	GRCh37
NC_000024.8:g.2715314G>A	NCBI36
NG_011751.1:g.5479C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_003140.3:c.331C>T MANE Select	NP_003131.1:p.Gln111Ter
ENST00000383070.2:c.331C>T MANE Select	ENSP00000372547.1:p.Gln111Ter
NM_003140.2:c.331C>T	NP_003131.1:p.Gln111Ter
ENST00000383070.1:c.331C>T	ENSP00000372547.1:p.Gln111Ter
ENST00000679518.1:n.106+12534G>A
ENST00000679825.1:n.385G>A
ENST00000680285.1:n.320-2476G>A
ENST00000680845.1:n.166-207G>A
ENST00000681787.1:n.106+12534G>A
ENST00000681940.1:n.106+12534G>A