Canonical Allele Identifier: CA385584117

Gene: RXYLT1

Linked Data

• MyVariant Identifiers: chr12:g.64174818T>G (hg19) ; chr12:g.63781038T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.63781038T>G , CM000674.2:g.63781038T>G	GRCh38
NC_000012.11:g.64174818T>G , CM000674.1:g.64174818T>G	GRCh37
NC_000012.10:g.62461085T>G	NCBI36
NG_033244.1:g.6236T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000537373.6:c.71T>G	ENSP00000440280.2:p.Val24Gly
ENST00000685296.1:c.189T>G	ENSP00000508796.1:p.Ser63Arg
ENST00000687087.1:c.189T>G	ENSP00000510657.1:p.Ser63Arg
ENST00000690060.1:c.189T>G	ENSP00000508435.1:p.Ser63Arg
ENST00000691840.1:n.925T>G
ENST00000692910.1:c.71T>G	ENSP00000509763.1:p.Val24Gly
ENST00000693579.1:c.71T>G	ENSP00000510692.1:p.Val24Gly
ENST00000261234.11:c.189T>G MANE Select	ENSP00000261234.6:p.Ser63Arg
ENST00000261234.10:c.189T>G	ENSP00000261234.6:p.Ser63Arg
ENST00000536219.5:n.308T>G
ENST00000537373.5:c.-592T>G	ENSP00000440280.1:n.-592T>G
ENST00000537982.5:n.366T>G
ENST00000543342.5:c.189T>G	ENSP00000440845.1:p.Ser63Arg
NM_001278237.1:c.-592T>G	NP_001265166.1:n.-592T>G
NM_014254.2:c.189T>G	NP_055069.1:p.Ser63Arg
XM_005268562.2:c.-285T>G	XP_005268619.1:n.-285T>G
XM_005268563.2:c.-285T>G	XP_005268620.1:n.-285T>G
XM_006719196.2:c.189T>G	XP_006719259.1:p.Ser63Arg
XM_005268562.3:c.-285T>G	XP_005268619.1:n.-285T>G
XM_005268563.3:c.-285T>G	XP_005268620.1:n.-285T>G
XM_017018686.1:c.-636T>G	XP_016874175.1:n.-636T>G
XM_017018687.1:c.-800T>G	XP_016874176.1:n.-800T>G
XR_001748549.1:n.319T>G
NM_014254.3:c.189T>G MANE Select	NP_055069.1:p.Ser63Arg
NM_001278237.2:c.-592T>G	NP_001265166.1:n.-592T>G