Canonical Allele Identifier: CA433126664

Gene: XYLB

Linked Data

• MyVariant Identifiers: chr3:g.38442386T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38400895T>C , CM000665.2:g.38400895T>C	GRCh38
NC_000003.11:g.38442386T>C , CM000665.1:g.38442386T>C	GRCh37
NC_000003.10:g.38417390T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000207870.8:c.1443T>C MANE Select	ENSP00000207870.3:p.Leu481=
ENST00000649234.1:c.*678T>C	ENSP00000497023.1:n.*678T>C
ENST00000650590.1:c.1362T>C	ENSP00000496840.1:p.Leu454=
ENST00000207870.7:c.1443T>C	ENSP00000207870.3:p.Leu481=
ENST00000424034.5:c.*1106T>C	ENSP00000398845.1:n.*1106T>C
ENST00000472721.1:n.320T>C
NM_005108.3:c.1443T>C	NP_005099.2:p.Leu481=
XM_011534325.1:c.1443T>C	XP_011532627.1:p.Leu481=
XM_011534326.1:c.1362T>C	XP_011532628.1:p.Leu454=
XM_011534327.1:c.1443T>C	XP_011532629.1:p.Leu481=
XM_011534328.1:c.1443T>C	XP_011532630.1:p.Leu481=
XM_011534329.1:c.1443T>C	XP_011532631.1:p.Leu481=
XM_011534330.1:c.1443T>C	XP_011532632.1:p.Leu481=
NM_001349178.1:c.1443T>C	NP_001336107.1:p.Leu481=
NM_001349179.1:c.1032T>C	NP_001336108.1:p.Leu344=
NR_146068.1:n.1360T>C
XM_011534325.3:c.1443T>C	XP_011532627.1:p.Leu481=
XM_011534327.2:c.1443T>C	XP_011532629.1:p.Leu481=
XM_011534328.3:c.1443T>C	XP_011532630.1:p.Leu481=
XM_011534329.2:c.1443T>C	XP_011532631.1:p.Leu481=
XM_011534330.3:c.1443T>C	XP_011532632.1:p.Leu481=
XM_017007595.1:c.1032T>C	XP_016863084.1:p.Leu344=
XM_017007596.1:c.1245T>C	XP_016863085.1:p.Leu415=
XM_017007597.1:c.762T>C	XP_016863086.1:p.Leu254=
XM_017007599.2:c.*53T>C	XP_016863088.1:n.*53T>C
XM_024453850.1:c.1245T>C	XP_024309618.1:p.Leu415=
NM_001349178.2:c.1443T>C	NP_001336107.1:p.Leu481=
NM_005108.4:c.1443T>C MANE Select	NP_005099.2:p.Leu481=
NR_146068.2:n.1335T>C
NM_001349179.2:c.1032T>C	NP_001336108.1:p.Leu344=