Canonical Allele Identifier: CA346798698
Gene: SIX3 HGNC NCBI

Linked Data

gnomAD v4: 2-44942115-G-A
MyVariant Identifiers: chr2:g.45169254G>A (hg19) chr2:g.44942115G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.44942115G>A , CM000664.2:g.44942115G>A GRCh38
NC_000002.11:g.45169254G>A , CM000664.1:g.45169254G>A GRCh37
NC_000002.10:g.45022758G>A NCBI36
NG_016222.1:g.5218G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000260653.5:c.11G>A MANE Select ENSP00000260653.3:p.Arg4His
ENST00000260653.4:c.11G>A ENSP00000260653.3:p.Arg4His
NM_005413.3:c.11G>A NP_005404.1:p.Arg4His
XM_011533042.1:c.11G>A XP_011531344.1:p.Arg4His
NM_005413.4:c.11G>A MANE Select NP_005404.1:p.Arg4His
Search 100 bp 5'
Search 100 bp 3'