Canonical Allele Identifier: CA254870
Gene: SRY HGNC NCBI

Linked Data

ClinVar Variation Id: 9743
ClinVar RCV Id: RCV000010397
dbSNP Id: rs606231179

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.2787280del , CM000686.2:g.2787280del GRCh38
NC_000024.9:g.2655321del , CM000686.1:g.2655321del GRCh37
NC_000024.8:g.2715321del NCBI36
NG_011751.1:g.5472del

Transcript Alleles

HGVS Amino-acid Change
ENST00000679518.1:n.106+12541del
ENST00000679825.1:n.392del
ENST00000680285.1:n.320-2469del
ENST00000680845.1:n.166-200del
ENST00000681787.1:n.106+12541del
ENST00000681940.1:n.106+12541del
ENST00000383070.2:c.324del MANE Select ENSP00000372547.1:p.Phe109SerfsTer?
ENST00000383070.1:c.324del ENSP00000372547.1:p.Phe109SerfsTer?
NM_003140.2:c.324del NP_003131.1:p.Phe109SerfsTer?
NM_003140.3:c.324del MANE Select NP_003131.1:p.Phe109SerfsTer?