Canonical Allele Identifier: CA346798915
Gene: SIX3 HGNC NCBI

Linked Data

gnomAD v4: 2-44942222-G-T
MyVariant Identifiers: chr2:g.45169361G>T (hg19) chr2:g.44942222G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.44942222G>T , CM000664.2:g.44942222G>T GRCh38
NC_000002.11:g.45169361G>T , CM000664.1:g.45169361G>T GRCh37
NC_000002.10:g.45022865G>T NCBI36
NG_016222.1:g.5325G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000260653.5:c.118G>T MANE Select ENSP00000260653.3:p.Gly40Cys
ENST00000260653.4:c.118G>T ENSP00000260653.3:p.Gly40Cys
NM_005413.3:c.118G>T NP_005404.1:p.Gly40Cys
XM_011533042.1:c.118G>T XP_011531344.1:p.Gly40Cys
NM_005413.4:c.118G>T MANE Select NP_005404.1:p.Gly40Cys
Search 100 bp 5'
Search 100 bp 3'