Canonical Allele Identifier: CA2318603

Gene: XYLB

Linked Data

• dbSNP Id: rs2234627
• ExAC: 3:38442402 G / A
• gnomAD v2: 3-38442402-G-A
• gnomAD v3: 3-38400911-G-A
• gnomAD v4: 3-38400911-G-A
• MyVariant Identifiers: chr3:g.38442402G>A (hg19) ; chr3:g.38400911G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38400911G>A , CM000665.2:g.38400911G>A	GRCh38
NC_000003.11:g.38442402G>A , CM000665.1:g.38442402G>A	GRCh37
NC_000003.10:g.38417406G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000207870.8:c.1459G>A MANE Select	ENSP00000207870.3:p.Val487Met
ENST00000649234.1:c.*694G>A	ENSP00000497023.1:n.*694G>A
ENST00000650590.1:c.1378G>A	ENSP00000496840.1:p.Val460Met
ENST00000207870.7:c.1459G>A	ENSP00000207870.3:p.Val487Met
ENST00000424034.5:c.*1122G>A	ENSP00000398845.1:n.*1122G>A
ENST00000472721.1:n.336G>A
NM_005108.3:c.1459G>A	NP_005099.2:p.Val487Met
XM_011534325.1:c.1459G>A	XP_011532627.1:p.Val487Met
XM_011534326.1:c.1378G>A	XP_011532628.1:p.Val460Met
XM_011534327.1:c.1459G>A	XP_011532629.1:p.Val487Met
XM_011534328.1:c.1459G>A	XP_011532630.1:p.Val487Met
XM_011534329.1:c.1459G>A	XP_011532631.1:p.Val487Met
XM_011534330.1:c.1459G>A	XP_011532632.1:p.Val487Met
NM_001349178.1:c.1459G>A	NP_001336107.1:p.Val487Met
NM_001349179.1:c.1048G>A	NP_001336108.1:p.Val350Met
NR_146068.1:n.1376G>A
XM_011534325.3:c.1459G>A	XP_011532627.1:p.Val487Met
XM_011534327.2:c.1459G>A	XP_011532629.1:p.Val487Met
XM_011534328.3:c.1459G>A	XP_011532630.1:p.Val487Met
XM_011534329.2:c.1459G>A	XP_011532631.1:p.Val487Met
XM_011534330.3:c.1459G>A	XP_011532632.1:p.Val487Met
XM_017007595.1:c.1048G>A	XP_016863084.1:p.Val350Met
XM_017007596.1:c.1261G>A	XP_016863085.1:p.Val421Met
XM_017007597.1:c.778G>A	XP_016863086.1:p.Val260Met
XM_017007599.2:c.*69G>A	XP_016863088.1:n.*69G>A
XM_024453850.1:c.1261G>A	XP_024309618.1:p.Val421Met
NM_001349178.2:c.1459G>A	NP_001336107.1:p.Val487Met
NM_005108.4:c.1459G>A MANE Select	NP_005099.2:p.Val487Met
NR_146068.2:n.1351G>A
NM_001349179.2:c.1048G>A	NP_001336108.1:p.Val350Met