Canonical Allele Identifier: CA352127498

Gene: XYLB

Linked Data

• gnomAD v4: 3-38400950-A-G
• MyVariant Identifiers: chr3:g.38442441A>G (hg19) ; chr3:g.38400950A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38400950A>G , CM000665.2:g.38400950A>G	GRCh38
NC_000003.11:g.38442441A>G , CM000665.1:g.38442441A>G	GRCh37
NC_000003.10:g.38417445A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000207870.8:c.1498A>G MANE Select	ENSP00000207870.3:p.Arg500Gly
ENST00000649234.1:c.*733A>G	ENSP00000497023.1:n.*733A>G
ENST00000650590.1:c.1417A>G	ENSP00000496840.1:p.Arg473Gly
ENST00000207870.7:c.1498A>G	ENSP00000207870.3:p.Arg500Gly
ENST00000424034.5:c.*1161A>G	ENSP00000398845.1:n.*1161A>G
ENST00000472721.1:n.375A>G
NM_005108.3:c.1498A>G	NP_005099.2:p.Arg500Gly
XM_011534325.1:c.1498A>G	XP_011532627.1:p.Arg500Gly
XM_011534326.1:c.1417A>G	XP_011532628.1:p.Arg473Gly
XM_011534327.1:c.1498A>G	XP_011532629.1:p.Arg500Gly
XM_011534328.1:c.1498A>G	XP_011532630.1:p.Arg500Gly
XM_011534329.1:c.1498A>G	XP_011532631.1:p.Arg500Gly
XM_011534330.1:c.1498A>G	XP_011532632.1:p.Arg500Gly
NM_001349178.1:c.1498A>G	NP_001336107.1:p.Arg500Gly
NM_001349179.1:c.1087A>G	NP_001336108.1:p.Arg363Gly
NR_146068.1:n.1415A>G
XM_011534325.3:c.1498A>G	XP_011532627.1:p.Arg500Gly
XM_011534327.2:c.1498A>G	XP_011532629.1:p.Arg500Gly
XM_011534328.3:c.1498A>G	XP_011532630.1:p.Arg500Gly
XM_011534329.2:c.1498A>G	XP_011532631.1:p.Arg500Gly
XM_011534330.3:c.1498A>G	XP_011532632.1:p.Arg500Gly
XM_017007595.1:c.1087A>G	XP_016863084.1:p.Arg363Gly
XM_017007596.1:c.1300A>G	XP_016863085.1:p.Arg434Gly
XM_017007597.1:c.817A>G	XP_016863086.1:p.Arg273Gly
XM_017007599.2:c.*108A>G	XP_016863088.1:n.*108A>G
XM_024453850.1:c.1300A>G	XP_024309618.1:p.Arg434Gly
NM_001349178.2:c.1498A>G	NP_001336107.1:p.Arg500Gly
NM_005108.4:c.1498A>G MANE Select	NP_005099.2:p.Arg500Gly
NR_146068.2:n.1390A>G
NM_001349179.2:c.1087A>G	NP_001336108.1:p.Arg363Gly