Canonical Allele Identifier: CA346799097

Gene: SIX3

Linked Data

• dbSNP Id: rs757487016
• gnomAD v2: 2-45169457-G-C
• gnomAD v4: 2-44942318-G-C
• MyVariant Identifiers: chr2:g.45169457G>C (hg19) ; chr2:g.45169457_45169458delinsCC (hg19) ; chr2:g.44942318G>C (hg38) ; chr2:g.44942318_44942319delinsCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.44942318G>C , CM000664.2:g.44942318G>C	GRCh38
NC_000002.11:g.45169457G>C , CM000664.1:g.45169457G>C	GRCh37
NC_000002.10:g.45022961G>C	NCBI36
NG_016222.1:g.5421G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260653.5:c.214G>C MANE Select	ENSP00000260653.3:p.Ala72Pro
ENST00000260653.4:c.214G>C	ENSP00000260653.3:p.Ala72Pro
NM_005413.3:c.214G>C	NP_005404.1:p.Ala72Pro
XM_011533042.1:c.214G>C	XP_011531344.1:p.Ala72Pro
NM_005413.4:c.214G>C MANE Select	NP_005404.1:p.Ala72Pro