Canonical Allele Identifier: CA414941123

Gene: SRY

Linked Data

• dbSNP Id: rs2124485905
• COSMIC: COSM758031
• MyVariant Identifiers: chrY:g.2655257G>A (hg19) ; chrY:g.2787216G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.2787216G>A , CM000686.2:g.2787216G>A	GRCh38
NC_000024.9:g.2655257G>A , CM000686.1:g.2655257G>A	GRCh37
NC_000024.8:g.2715257G>A	NCBI36
NG_011751.1:g.5536C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000679518.1:n.106+12477G>A
ENST00000679825.1:n.328G>A
ENST00000680285.1:n.320-2533G>A
ENST00000680845.1:n.165+163G>A
ENST00000681787.1:n.106+12477G>A
ENST00000681940.1:n.106+12477G>A
ENST00000383070.2:c.388C>T MANE Select	ENSP00000372547.1:p.Arg130Ter
ENST00000383070.1:c.388C>T	ENSP00000372547.1:p.Arg130Ter
NM_003140.2:c.388C>T	NP_003131.1:p.Arg130Ter
NM_003140.3:c.388C>T MANE Select	NP_003131.1:p.Arg130Ter