Canonical Allele Identifier: CA254869
Gene: SRY HGNC NCBI

Linked Data

ClinVar Variation Id: 9742
ClinVar RCV Id: RCV000010396
dbSNP Id: rs104894964

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.2787287T>A , CM000686.2:g.2787287T>A GRCh38
NC_000024.9:g.2655328T>A , CM000686.1:g.2655328T>A GRCh37
NC_000024.8:g.2715328T>A NCBI36
NG_011751.1:g.5465A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000679518.1:n.106+12548T>A
ENST00000679825.1:n.399T>A
ENST00000680285.1:n.320-2462T>A
ENST00000680845.1:n.166-193T>A
ENST00000681787.1:n.106+12548T>A
ENST00000681940.1:n.106+12548T>A
ENST00000383070.2:c.317A>T MANE Select ENSP00000372547.1:p.Lys106Ile
ENST00000383070.1:c.317A>T ENSP00000372547.1:p.Lys106Ile
NM_003140.2:c.317A>T NP_003131.1:p.Lys106Ile
NM_003140.3:c.317A>T MANE Select NP_003131.1:p.Lys106Ile