Canonical Allele Identifier: CA1642258
Gene: SIX3 HGNC NCBI

Linked Data

dbSNP Id: rs754899804
gnomAD v2: 2-45169341-G-A
gnomAD v3: 2-44942202-G-A
gnomAD v4: 2-44942202-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.44942202G>A , CM000664.2:g.44942202G>A GRCh38
NC_000002.11:g.45169341G>A , CM000664.1:g.45169341G>A GRCh37
NC_000002.10:g.45022845G>A NCBI36
NG_016222.1:g.5305G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000260653.5:c.98G>A MANE Select ENSP00000260653.3:p.Gly33Asp
ENST00000260653.4:c.98G>A ENSP00000260653.3:p.Gly33Asp
NM_005413.3:c.98G>A NP_005404.1:p.Gly33Asp
XM_011533042.1:c.98G>A XP_011531344.1:p.Gly33Asp
NM_005413.4:c.98G>A MANE Select NP_005404.1:p.Gly33Asp