Canonical Allele Identifier: CA254874
Gene: SRY HGNC NCBI

Linked Data

ClinVar Variation Id: 9746
ClinVar RCV Id: RCV000010400
dbSNP Id: rs104894968

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.2787401A>G , CM000686.2:g.2787401A>G GRCh38
NC_000024.9:g.2655442A>G , CM000686.1:g.2655442A>G GRCh37
NC_000024.8:g.2715442A>G NCBI36
NG_011751.1:g.5351T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000679518.1:n.106+12662A>G
ENST00000679825.1:n.513A>G
ENST00000680285.1:n.320-2348A>G
ENST00000680845.1:n.166-79A>G
ENST00000681787.1:n.106+12662A>G
ENST00000681940.1:n.106+12662A>G
ENST00000383070.2:c.203T>C MANE Select ENSP00000372547.1:p.Ile68Thr
ENST00000383070.1:c.203T>C ENSP00000372547.1:p.Ile68Thr
NM_003140.2:c.203T>C NP_003131.1:p.Ile68Thr
NM_003140.3:c.203T>C MANE Select NP_003131.1:p.Ile68Thr