Canonical Allele Identifier: CA346798911
Gene: SIX3 HGNC NCBI

Linked Data

gnomAD v4: 2-44942220-G-C
MyVariant Identifiers: chr2:g.45169359G>C (hg19) chr2:g.44942220G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.44942220G>C , CM000664.2:g.44942220G>C GRCh38
NC_000002.11:g.45169359G>C , CM000664.1:g.45169359G>C GRCh37
NC_000002.10:g.45022863G>C NCBI36
NG_016222.1:g.5323G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000260653.5:c.116G>C MANE Select ENSP00000260653.3:p.Gly39Ala
ENST00000260653.4:c.116G>C ENSP00000260653.3:p.Gly39Ala
NM_005413.3:c.116G>C NP_005404.1:p.Gly39Ala
XM_011533042.1:c.116G>C XP_011531344.1:p.Gly39Ala
NM_005413.4:c.116G>C MANE Select NP_005404.1:p.Gly39Ala
Search 100 bp 5'
Search 100 bp 3'