Canonical Allele Identifier: CA346799090
Gene: SIX3 HGNC NCBI

Linked Data

gnomAD v4: 2-44942315-A-G
MyVariant Identifiers: chr2:g.45169454A>G (hg19) chr2:g.44942315A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.44942315A>G , CM000664.2:g.44942315A>G GRCh38
NC_000002.11:g.45169454A>G , CM000664.1:g.45169454A>G GRCh37
NC_000002.10:g.45022958A>G NCBI36
NG_016222.1:g.5418A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000260653.5:c.211A>G MANE Select ENSP00000260653.3:p.Arg71Gly
ENST00000260653.4:c.211A>G ENSP00000260653.3:p.Arg71Gly
NM_005413.3:c.211A>G NP_005404.1:p.Arg71Gly
XM_011533042.1:c.211A>G XP_011531344.1:p.Arg71Gly
NM_005413.4:c.211A>G MANE Select NP_005404.1:p.Arg71Gly
Search 100 bp 5'
Search 100 bp 3'