Canonical Allele Identifier: CA2041868932

Gene: RXYLT1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.63781033G= , CM000674.2:g.63781033G=	GRCh38
NC_000012.11:g.64174813G= , CM000674.1:g.64174813G=	GRCh37
NC_000012.10:g.62461080G=	NCBI36
NG_033244.1:g.6231G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000537373.6:c.66G=	ENSP00000440280.2:p.Trp22=
ENST00000685296.1:c.184G=	ENSP00000508796.1:p.Glu62=
ENST00000687087.1:c.184G=	ENSP00000510657.1:p.Glu62=
ENST00000690060.1:c.184G=	ENSP00000508435.1:p.Glu62=
ENST00000691840.1:n.920G=
ENST00000692910.1:c.66G=	ENSP00000509763.1:p.Trp22=
ENST00000693579.1:c.66G=	ENSP00000510692.1:p.Trp22=
ENST00000261234.11:c.184G= MANE Select	ENSP00000261234.6:p.Glu62=
ENST00000261234.10:c.184G=	ENSP00000261234.6:p.Glu62=
ENST00000536219.5:n.303G=
ENST00000537373.5:c.-597G=	ENSP00000440280.1:n.-597G=
ENST00000537982.5:n.361G=
ENST00000543342.5:c.184G=	ENSP00000440845.1:p.Glu62=
NM_001278237.1:c.-597G=	NP_001265166.1:n.-597G=
NM_014254.2:c.184G=	NP_055069.1:p.Glu62=
XM_005268562.2:c.-290G=	XP_005268619.1:n.-290G=
XM_005268563.2:c.-290G=	XP_005268620.1:n.-290G=
XM_006719196.2:c.184G=	XP_006719259.1:p.Glu62=
XM_005268562.3:c.-290G=	XP_005268619.1:n.-290G=
XM_005268563.3:c.-290G=	XP_005268620.1:n.-290G=
XM_017018686.1:c.-641G=	XP_016874175.1:n.-641G=
XM_017018687.1:c.-805G=	XP_016874176.1:n.-805G=
XR_001748549.1:n.314G=
NM_014254.3:c.184G= MANE Select	NP_055069.1:p.Glu62=
NM_001278237.2:c.-597G=	NP_001265166.1:n.-597G=