Canonical Allele Identifier: CA352127122

Gene: XYLB

Linked Data

• dbSNP Id: rs1326045106
• gnomAD v2: 3-38442384-C-G
• MyVariant Identifiers: chr3:g.38442384C>G (hg19) ; chr3:g.38400893C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38400893C>G , CM000665.2:g.38400893C>G	GRCh38
NC_000003.11:g.38442384C>G , CM000665.1:g.38442384C>G	GRCh37
NC_000003.10:g.38417388C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000207870.8:c.1441C>G MANE Select	ENSP00000207870.3:p.Leu481Val
ENST00000649234.1:c.*676C>G	ENSP00000497023.1:n.*676C>G
ENST00000650590.1:c.1360C>G	ENSP00000496840.1:p.Leu454Val
ENST00000207870.7:c.1441C>G	ENSP00000207870.3:p.Leu481Val
ENST00000424034.5:c.*1104C>G	ENSP00000398845.1:n.*1104C>G
ENST00000472721.1:n.318C>G
NM_005108.3:c.1441C>G	NP_005099.2:p.Leu481Val
XM_011534325.1:c.1441C>G	XP_011532627.1:p.Leu481Val
XM_011534326.1:c.1360C>G	XP_011532628.1:p.Leu454Val
XM_011534327.1:c.1441C>G	XP_011532629.1:p.Leu481Val
XM_011534328.1:c.1441C>G	XP_011532630.1:p.Leu481Val
XM_011534329.1:c.1441C>G	XP_011532631.1:p.Leu481Val
XM_011534330.1:c.1441C>G	XP_011532632.1:p.Leu481Val
NM_001349178.1:c.1441C>G	NP_001336107.1:p.Leu481Val
NM_001349179.1:c.1030C>G	NP_001336108.1:p.Leu344Val
NR_146068.1:n.1358C>G
XM_011534325.3:c.1441C>G	XP_011532627.1:p.Leu481Val
XM_011534327.2:c.1441C>G	XP_011532629.1:p.Leu481Val
XM_011534328.3:c.1441C>G	XP_011532630.1:p.Leu481Val
XM_011534329.2:c.1441C>G	XP_011532631.1:p.Leu481Val
XM_011534330.3:c.1441C>G	XP_011532632.1:p.Leu481Val
XM_017007595.1:c.1030C>G	XP_016863084.1:p.Leu344Val
XM_017007596.1:c.1243C>G	XP_016863085.1:p.Leu415Val
XM_017007597.1:c.760C>G	XP_016863086.1:p.Leu254Val
XM_017007599.2:c.*51C>G	XP_016863088.1:n.*51C>G
XM_024453850.1:c.1243C>G	XP_024309618.1:p.Leu415Val
NM_001349178.2:c.1441C>G	NP_001336107.1:p.Leu481Val
NM_005108.4:c.1441C>G MANE Select	NP_005099.2:p.Leu481Val
NR_146068.2:n.1333C>G
NM_001349179.2:c.1030C>G	NP_001336108.1:p.Leu344Val