Canonical Allele Identifier: CA414941508
Gene: SRY HGNC NCBI

Linked Data

ClinVar Variation Id: 1490028
ClinVar RCV Id: RCV002001650
dbSNP Id: rs2124486234
MyVariant Identifiers: chrY:g.2655419G>A (hg19) chrY:g.2787378G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.2787378G>A , CM000686.2:g.2787378G>A GRCh38
NC_000024.9:g.2655419G>A , CM000686.1:g.2655419G>A GRCh37
NC_000024.8:g.2715419G>A NCBI36
NG_011751.1:g.5374C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000679518.1:n.106+12639G>A
ENST00000679825.1:n.490G>A
ENST00000680285.1:n.320-2371G>A
ENST00000680845.1:n.166-102G>A
ENST00000681787.1:n.106+12639G>A
ENST00000681940.1:n.106+12639G>A
ENST00000383070.2:c.226C>T MANE Select ENSP00000372547.1:p.Arg76Cys
ENST00000383070.1:c.226C>T ENSP00000372547.1:p.Arg76Cys
NM_003140.2:c.226C>T NP_003131.1:p.Arg76Cys
NM_003140.3:c.226C>T MANE Select NP_003131.1:p.Arg76Cys
Search 100 bp 5'
Search 100 bp 3'