Canonical Allele Identifier: CA414941576
Gene: SRY HGNC NCBI

Linked Data

ClinVar Variation Id: 1177296
ClinVar RCV Id: RCV001533005
dbSNP Id: rs2124486291

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.2787408C>G , CM000686.2:g.2787408C>G GRCh38
NC_000024.9:g.2655449C>G , CM000686.1:g.2655449C>G GRCh37
NC_000024.8:g.2715449C>G NCBI36
NG_011751.1:g.5344G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000679518.1:n.106+12669C>G
ENST00000679825.1:n.520C>G
ENST00000680285.1:n.320-2341C>G
ENST00000680845.1:n.166-72C>G
ENST00000681787.1:n.106+12669C>G
ENST00000681940.1:n.106+12669C>G
ENST00000383070.2:c.196G>C MANE Select ENSP00000372547.1:p.Ala66Pro
ENST00000383070.1:c.196G>C ENSP00000372547.1:p.Ala66Pro
NM_003140.2:c.196G>C NP_003131.1:p.Ala66Pro
NM_003140.3:c.196G>C MANE Select NP_003131.1:p.Ala66Pro