Canonical Allele Identifier: CA114741
Gene: SOX17 HGNC NCBI

Linked Data

ClinVar Variation Id: 18413
dbSNP Id: rs267607083
gnomAD v2: 8-55372085-T-A
gnomAD v3: 8-54459525-T-A
gnomAD v4: 8-54459525-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.54459525T>A , CM000670.2:g.54459525T>A GRCh38
NC_000008.10:g.55372085T>A , CM000670.1:g.55372085T>A GRCh37
NC_000008.9:g.55534638T>A NCBI36
NG_028171.1:g.6591T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000297316.5:c.775T>A MANE Select ENSP00000297316.4:p.Tyr259Asn
ENST00000297316.4:c.775T>A ENSP00000297316.4:p.Tyr259Asn
NM_022454.3:c.775T>A NP_071899.1:p.Tyr259Asn
NM_022454.4:c.775T>A MANE Select NP_071899.1:p.Tyr259Asn