Canonical Allele Identifier: CA426045572

Gene: SIX3

Linked Data

• MyVariant Identifiers: chr2:g.45169262C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.44942123C>T , CM000664.2:g.44942123C>T	GRCh38
NC_000002.11:g.45169262C>T , CM000664.1:g.45169262C>T	GRCh37
NC_000002.10:g.45022766C>T	NCBI36
NG_016222.1:g.5226C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260653.5:c.19C>T MANE Select	ENSP00000260653.3:p.Leu7=
ENST00000260653.4:c.19C>T	ENSP00000260653.3:p.Leu7=
NM_005413.3:c.19C>T	NP_005404.1:p.Leu7=
XM_011533042.1:c.19C>T	XP_011531344.1:p.Leu7=
NM_005413.4:c.19C>T MANE Select	NP_005404.1:p.Leu7=