Canonical Allele Identifier: CA414941264

Gene: SRY

Linked Data

• MyVariant Identifiers: chrY:g.2655314G>C (hg19) ; chrY:g.2787273G>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000679518.1:n.106+12534G>C
ENST00000679825.1:n.385G>C
ENST00000680285.1:n.320-2476G>C
ENST00000680845.1:n.166-207G>C
ENST00000681787.1:n.106+12534G>C
ENST00000681940.1:n.106+12534G>C
ENST00000383070.2:c.331C>G MANE Select	ENSP00000372547.1:p.Gln111Glu
ENST00000383070.1:c.331C>G	ENSP00000372547.1:p.Gln111Glu
NM_003140.2:c.331C>G	NP_003131.1:p.Gln111Glu
NM_003140.3:c.331C>G MANE Select	NP_003131.1:p.Gln111Glu