Canonical Allele Identifier: CA340521
Gene: SIX3 HGNC NCBI

Linked Data

ClinVar Variation Id: 6095
ClinVar RCV Id: RCV000006468
dbSNP Id: rs121917880
gnomAD v4: 2-44942853-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.44942853T>C , CM000664.2:g.44942853T>C GRCh38
NC_000002.11:g.45169992T>C , CM000664.1:g.45169992T>C GRCh37
NC_000002.10:g.45023496T>C NCBI36
NG_016222.1:g.5956T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000260653.5:c.749T>C MANE Select ENSP00000260653.3:p.Val250Ala
ENST00000260653.4:c.749T>C ENSP00000260653.3:p.Val250Ala
NM_005413.3:c.749T>C NP_005404.1:p.Val250Ala
XM_011533042.1:c.749T>C XP_011531344.1:p.Val250Ala
NM_005413.4:c.749T>C MANE Select NP_005404.1:p.Val250Ala