Canonical Allele Identifier: CA426126436
Gene: SIX3 HGNC NCBI

Linked Data

gnomAD v4: 2-44942302-C-A
MyVariant Identifiers: chr2:g.45169441C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.44942302C>A , CM000664.2:g.44942302C>A GRCh38
NC_000002.11:g.45169441C>A , CM000664.1:g.45169441C>A GRCh37
NC_000002.10:g.45022945C>A NCBI36
NG_016222.1:g.5405C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000260653.5:c.198C>A MANE Select ENSP00000260653.3:p.Gly66=
ENST00000260653.4:c.198C>A ENSP00000260653.3:p.Gly66=
NM_005413.3:c.198C>A NP_005404.1:p.Gly66=
XM_011533042.1:c.198C>A XP_011531344.1:p.Gly66=
NM_005413.4:c.198C>A MANE Select NP_005404.1:p.Gly66=