Canonical Allele Identifier: CA346799021
Gene: SIX3 HGNC NCBI

Linked Data

gnomAD v4: 2-44942279-G-A
MyVariant Identifiers: chr2:g.45169418G>A (hg19) chr2:g.44942279G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.44942279G>A , CM000664.2:g.44942279G>A GRCh38
NC_000002.11:g.45169418G>A , CM000664.1:g.45169418G>A GRCh37
NC_000002.10:g.45022922G>A NCBI36
NG_016222.1:g.5382G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000260653.5:c.175G>A MANE Select ENSP00000260653.3:p.Ala59Thr
ENST00000260653.4:c.175G>A ENSP00000260653.3:p.Ala59Thr
NM_005413.3:c.175G>A NP_005404.1:p.Ala59Thr
XM_011533042.1:c.175G>A XP_011531344.1:p.Ala59Thr
NM_005413.4:c.175G>A MANE Select NP_005404.1:p.Ala59Thr
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