Canonical Allele Identifier: CA414941287

Gene: SRY

Linked Data

• ClinVar Variation Id: 1045315
• ClinVar RCV Id: RCV001349702
• dbSNP Id: rs2051122910
• MyVariant Identifiers: chrY:g.2655324C>A (hg19) ; chrY:g.2787283C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.2787283C>A , CM000686.2:g.2787283C>A	GRCh38
NC_000024.9:g.2655324C>A , CM000686.1:g.2655324C>A	GRCh37
NC_000024.8:g.2715324C>A	NCBI36
NG_011751.1:g.5469G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000679518.1:n.106+12544C>A
ENST00000679825.1:n.395C>A
ENST00000680285.1:n.320-2466C>A
ENST00000680845.1:n.166-197C>A
ENST00000681787.1:n.106+12544C>A
ENST00000681940.1:n.106+12544C>A
ENST00000383070.2:c.321G>T MANE Select	ENSP00000372547.1:p.Trp107Cys
ENST00000383070.1:c.321G>T	ENSP00000372547.1:p.Trp107Cys
NM_003140.2:c.321G>T	NP_003131.1:p.Trp107Cys
NM_003140.3:c.321G>T MANE Select	NP_003131.1:p.Trp107Cys