Canonical Allele Identifier: CA1642262

Gene: SIX3

Linked Data

• dbSNP Id: rs758696758
• ExAC: 2:45169354 T / C
• gnomAD v2: 2-45169354-T-C
• gnomAD v4: 2-44942215-T-C
• MyVariant Identifiers: chr2:g.45169354T>C (hg19) ; chr2:g.45169354_45169372delinsCGCGGGAGGCGGCGGCGGC (hg19) ; chr2:g.44942215T>C (hg38) ; chr2:g.44942215_44942233delinsCGCGGGAGGCGGCGGCGGC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.44942215T>C , CM000664.2:g.44942215T>C	GRCh38
NC_000002.11:g.45169354T>C , CM000664.1:g.45169354T>C	GRCh37
NC_000002.10:g.45022858T>C	NCBI36
NG_016222.1:g.5318T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000260653.5:c.111T>C MANE Select	ENSP00000260653.3:p.Gly37=
ENST00000260653.4:c.111T>C	ENSP00000260653.3:p.Gly37=
NM_005413.3:c.111T>C	NP_005404.1:p.Gly37=
XM_011533042.1:c.111T>C	XP_011531344.1:p.Gly37=
NM_005413.4:c.111T>C MANE Select	NP_005404.1:p.Gly37=