Canonical Allele Identifier: CA1358492323

Gene: XYLB

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38400894T= , CM000665.2:g.38400894T=	GRCh38
NC_000003.11:g.38442385T= , CM000665.1:g.38442385T=	GRCh37
NC_000003.10:g.38417389T=	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000207870.8:c.1442T= MANE Select	ENSP00000207870.3:p.Leu481=
ENST00000649234.1:c.*677T=	ENSP00000497023.1:n.*677T=
ENST00000650590.1:c.1361T=	ENSP00000496840.1:p.Leu454=
ENST00000207870.7:c.1442T=	ENSP00000207870.3:p.Leu481=
ENST00000424034.5:c.*1105T=	ENSP00000398845.1:n.*1105T=
ENST00000472721.1:n.319T=
NM_005108.3:c.1442T=	NP_005099.2:p.Leu481=
XM_011534325.1:c.1442T=	XP_011532627.1:p.Leu481=
XM_011534326.1:c.1361T=	XP_011532628.1:p.Leu454=
XM_011534327.1:c.1442T=	XP_011532629.1:p.Leu481=
XM_011534328.1:c.1442T=	XP_011532630.1:p.Leu481=
XM_011534329.1:c.1442T=	XP_011532631.1:p.Leu481=
XM_011534330.1:c.1442T=	XP_011532632.1:p.Leu481=
NM_001349178.1:c.1442T=	NP_001336107.1:p.Leu481=
NM_001349179.1:c.1031T=	NP_001336108.1:p.Leu344=
NR_146068.1:n.1359T=
XM_011534325.3:c.1442T=	XP_011532627.1:p.Leu481=
XM_011534327.2:c.1442T=	XP_011532629.1:p.Leu481=
XM_011534328.3:c.1442T=	XP_011532630.1:p.Leu481=
XM_011534329.2:c.1442T=	XP_011532631.1:p.Leu481=
XM_011534330.3:c.1442T=	XP_011532632.1:p.Leu481=
XM_017007595.1:c.1031T=	XP_016863084.1:p.Leu344=
XM_017007596.1:c.1244T=	XP_016863085.1:p.Leu415=
XM_017007597.1:c.761T=	XP_016863086.1:p.Leu254=
XM_017007599.2:c.*52T=	XP_016863088.1:n.*52T=
XM_024453850.1:c.1244T=	XP_024309618.1:p.Leu415=
NM_001349178.2:c.1442T=	NP_001336107.1:p.Leu481=
NM_005108.4:c.1442T= MANE Select	NP_005099.2:p.Leu481=
NR_146068.2:n.1334T=
NM_001349179.2:c.1031T=	NP_001336108.1:p.Leu344=