Canonical Allele Identifier: CA385584109

Gene: RXYLT1

Linked Data

• MyVariant Identifiers: chr12:g.64174815A>T (hg19) ; chr12:g.63781035A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.63781035A>T , CM000674.2:g.63781035A>T	GRCh38
NC_000012.11:g.64174815A>T , CM000674.1:g.64174815A>T	GRCh37
NC_000012.10:g.62461082A>T	NCBI36
NG_033244.1:g.6233A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000537373.6:c.68A>T	ENSP00000440280.2:p.Lys23Ile
ENST00000685296.1:c.186A>T	ENSP00000508796.1:p.Glu62Asp
ENST00000687087.1:c.186A>T	ENSP00000510657.1:p.Glu62Asp
ENST00000690060.1:c.186A>T	ENSP00000508435.1:p.Glu62Asp
ENST00000691840.1:n.922A>T
ENST00000692910.1:c.68A>T	ENSP00000509763.1:p.Lys23Ile
ENST00000693579.1:c.68A>T	ENSP00000510692.1:p.Lys23Ile
ENST00000261234.11:c.186A>T MANE Select	ENSP00000261234.6:p.Glu62Asp
ENST00000261234.10:c.186A>T	ENSP00000261234.6:p.Glu62Asp
ENST00000536219.5:n.305A>T
ENST00000537373.5:c.-595A>T	ENSP00000440280.1:n.-595A>T
ENST00000537982.5:n.363A>T
ENST00000543342.5:c.186A>T	ENSP00000440845.1:p.Glu62Asp
NM_001278237.1:c.-595A>T	NP_001265166.1:n.-595A>T
NM_014254.2:c.186A>T	NP_055069.1:p.Glu62Asp
XM_005268562.2:c.-288A>T	XP_005268619.1:n.-288A>T
XM_005268563.2:c.-288A>T	XP_005268620.1:n.-288A>T
XM_006719196.2:c.186A>T	XP_006719259.1:p.Glu62Asp
XM_005268562.3:c.-288A>T	XP_005268619.1:n.-288A>T
XM_005268563.3:c.-288A>T	XP_005268620.1:n.-288A>T
XM_017018686.1:c.-639A>T	XP_016874175.1:n.-639A>T
XM_017018687.1:c.-803A>T	XP_016874176.1:n.-803A>T
XR_001748549.1:n.316A>T
NM_014254.3:c.186A>T MANE Select	NP_055069.1:p.Glu62Asp
NM_001278237.2:c.-595A>T	NP_001265166.1:n.-595A>T