Canonical Allele Identifier: CA414940646

Gene: SRY

Linked Data

• MyVariant Identifiers: chrY:g.2655048G>T (hg19) ; chrY:g.2787007G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.2787007G>T , CM000686.2:g.2787007G>T	GRCh38
NC_000024.9:g.2655048G>T , CM000686.1:g.2655048G>T	GRCh37
NC_000024.8:g.2715048G>T	NCBI36
NG_011751.1:g.5745C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000679518.1:n.106+12268G>T
ENST00000679825.1:n.119G>T
ENST00000680285.1:n.320-2742G>T
ENST00000680845.1:n.119G>T
ENST00000681787.1:n.106+12268G>T
ENST00000681940.1:n.106+12268G>T
ENST00000383070.2:c.597C>A MANE Select	ENSP00000372547.1:p.Ser199Arg
ENST00000383070.1:c.597C>A	ENSP00000372547.1:p.Ser199Arg
NM_003140.2:c.597C>A	NP_003131.1:p.Ser199Arg
NM_003140.3:c.597C>A MANE Select	NP_003131.1:p.Ser199Arg