Canonical Allele Identifier: CA385584105

Gene: RXYLT1

Linked Data

• MyVariant Identifiers: chr12:g.64174814A>C (hg19) ; chr12:g.63781034A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.63781034A>C , CM000674.2:g.63781034A>C	GRCh38
NC_000012.11:g.64174814A>C , CM000674.1:g.64174814A>C	GRCh37
NC_000012.10:g.62461081A>C	NCBI36
NG_033244.1:g.6232A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000537373.6:c.67A>C	ENSP00000440280.2:p.Lys23Gln
ENST00000685296.1:c.185A>C	ENSP00000508796.1:p.Glu62Ala
ENST00000687087.1:c.185A>C	ENSP00000510657.1:p.Glu62Ala
ENST00000690060.1:c.185A>C	ENSP00000508435.1:p.Glu62Ala
ENST00000691840.1:n.921A>C
ENST00000692910.1:c.67A>C	ENSP00000509763.1:p.Lys23Gln
ENST00000693579.1:c.67A>C	ENSP00000510692.1:p.Lys23Gln
ENST00000261234.11:c.185A>C MANE Select	ENSP00000261234.6:p.Glu62Ala
ENST00000261234.10:c.185A>C	ENSP00000261234.6:p.Glu62Ala
ENST00000536219.5:n.304A>C
ENST00000537373.5:c.-596A>C	ENSP00000440280.1:n.-596A>C
ENST00000537982.5:n.362A>C
ENST00000543342.5:c.185A>C	ENSP00000440845.1:p.Glu62Ala
NM_001278237.1:c.-596A>C	NP_001265166.1:n.-596A>C
NM_014254.2:c.185A>C	NP_055069.1:p.Glu62Ala
XM_005268562.2:c.-289A>C	XP_005268619.1:n.-289A>C
XM_005268563.2:c.-289A>C	XP_005268620.1:n.-289A>C
XM_006719196.2:c.185A>C	XP_006719259.1:p.Glu62Ala
XM_005268562.3:c.-289A>C	XP_005268619.1:n.-289A>C
XM_005268563.3:c.-289A>C	XP_005268620.1:n.-289A>C
XM_017018686.1:c.-640A>C	XP_016874175.1:n.-640A>C
XM_017018687.1:c.-804A>C	XP_016874176.1:n.-804A>C
XR_001748549.1:n.315A>C
NM_014254.3:c.185A>C MANE Select	NP_055069.1:p.Glu62Ala
NM_001278237.2:c.-596A>C	NP_001265166.1:n.-596A>C