Canonical Allele Identifier: CA346800106

Gene: SIX3

Linked Data

• MyVariant Identifiers: chr2:g.45169914G>T (hg19) ; chr2:g.44942775G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.44942775G>T , CM000664.2:g.44942775G>T	GRCh38
NC_000002.11:g.45169914G>T , CM000664.1:g.45169914G>T	GRCh37
NC_000002.10:g.45023418G>T	NCBI36
NG_016222.1:g.5878G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000260653.5:c.671G>T MANE Select	ENSP00000260653.3:p.Trp224Leu
ENST00000260653.4:c.671G>T	ENSP00000260653.3:p.Trp224Leu
NM_005413.3:c.671G>T	NP_005404.1:p.Trp224Leu
XM_011533042.1:c.671G>T	XP_011531344.1:p.Trp224Leu
NM_005413.4:c.671G>T MANE Select	NP_005404.1:p.Trp224Leu