Canonical Allele Identifier: CA352127573

Gene: XYLB

Linked Data

• MyVariant Identifiers: chr3:g.38442456C>A (hg19) ; chr3:g.38400965C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38400965C>A , CM000665.2:g.38400965C>A	GRCh38
NC_000003.11:g.38442456C>A , CM000665.1:g.38442456C>A	GRCh37
NC_000003.10:g.38417460C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000207870.8:c.1513C>A MANE Select	ENSP00000207870.3:p.Pro505Thr
ENST00000649234.1:c.*748C>A	ENSP00000497023.1:n.*748C>A
ENST00000650590.1:c.1432C>A	ENSP00000496840.1:p.Pro478Thr
ENST00000207870.7:c.1513C>A	ENSP00000207870.3:p.Pro505Thr
ENST00000424034.5:c.*1176C>A	ENSP00000398845.1:n.*1176C>A
ENST00000472721.1:n.390C>A
NM_005108.3:c.1513C>A	NP_005099.2:p.Pro505Thr
XM_011534325.1:c.1513C>A	XP_011532627.1:p.Pro505Thr
XM_011534326.1:c.1432C>A	XP_011532628.1:p.Pro478Thr
XM_011534327.1:c.1513C>A	XP_011532629.1:p.Pro505Thr
XM_011534328.1:c.1513C>A	XP_011532630.1:p.Pro505Thr
XM_011534329.1:c.1513C>A	XP_011532631.1:p.Pro505Thr
XM_011534330.1:c.1513C>A	XP_011532632.1:p.Pro505Thr
NM_001349178.1:c.1513C>A	NP_001336107.1:p.Pro505Thr
NM_001349179.1:c.1102C>A	NP_001336108.1:p.Pro368Thr
NR_146068.1:n.1430C>A
XM_011534325.3:c.1513C>A	XP_011532627.1:p.Pro505Thr
XM_011534327.2:c.1513C>A	XP_011532629.1:p.Pro505Thr
XM_011534328.3:c.1513C>A	XP_011532630.1:p.Pro505Thr
XM_011534329.2:c.1513C>A	XP_011532631.1:p.Pro505Thr
XM_011534330.3:c.1513C>A	XP_011532632.1:p.Pro505Thr
XM_017007595.1:c.1102C>A	XP_016863084.1:p.Pro368Thr
XM_017007596.1:c.1315C>A	XP_016863085.1:p.Pro439Thr
XM_017007597.1:c.832C>A	XP_016863086.1:p.Pro278Thr
XM_017007599.2:c.*123C>A	XP_016863088.1:n.*123C>A
XM_024453850.1:c.1315C>A	XP_024309618.1:p.Pro439Thr
NM_001349178.2:c.1513C>A	NP_001336107.1:p.Pro505Thr
NM_005108.4:c.1513C>A MANE Select	NP_005099.2:p.Pro505Thr
NR_146068.2:n.1405C>A
NM_001349179.2:c.1102C>A	NP_001336108.1:p.Pro368Thr