Canonical Allele Identifier: CA352127373

Gene: XYLB

Linked Data

• dbSNP Id: rs1708097306
• gnomAD v4: 3-38400930-T-C
• MyVariant Identifiers: chr3:g.38442421T>C (hg19) ; chr3:g.38400930T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38400930T>C , CM000665.2:g.38400930T>C	GRCh38
NC_000003.11:g.38442421T>C , CM000665.1:g.38442421T>C	GRCh37
NC_000003.10:g.38417425T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000207870.8:c.1478T>C MANE Select	ENSP00000207870.3:p.Val493Ala
ENST00000649234.1:c.*713T>C	ENSP00000497023.1:n.*713T>C
ENST00000650590.1:c.1397T>C	ENSP00000496840.1:p.Val466Ala
ENST00000207870.7:c.1478T>C	ENSP00000207870.3:p.Val493Ala
ENST00000424034.5:c.*1141T>C	ENSP00000398845.1:n.*1141T>C
ENST00000472721.1:n.355T>C
NM_005108.3:c.1478T>C	NP_005099.2:p.Val493Ala
XM_011534325.1:c.1478T>C	XP_011532627.1:p.Val493Ala
XM_011534326.1:c.1397T>C	XP_011532628.1:p.Val466Ala
XM_011534327.1:c.1478T>C	XP_011532629.1:p.Val493Ala
XM_011534328.1:c.1478T>C	XP_011532630.1:p.Val493Ala
XM_011534329.1:c.1478T>C	XP_011532631.1:p.Val493Ala
XM_011534330.1:c.1478T>C	XP_011532632.1:p.Val493Ala
NM_001349178.1:c.1478T>C	NP_001336107.1:p.Val493Ala
NM_001349179.1:c.1067T>C	NP_001336108.1:p.Val356Ala
NR_146068.1:n.1395T>C
XM_011534325.3:c.1478T>C	XP_011532627.1:p.Val493Ala
XM_011534327.2:c.1478T>C	XP_011532629.1:p.Val493Ala
XM_011534328.3:c.1478T>C	XP_011532630.1:p.Val493Ala
XM_011534329.2:c.1478T>C	XP_011532631.1:p.Val493Ala
XM_011534330.3:c.1478T>C	XP_011532632.1:p.Val493Ala
XM_017007595.1:c.1067T>C	XP_016863084.1:p.Val356Ala
XM_017007596.1:c.1280T>C	XP_016863085.1:p.Val427Ala
XM_017007597.1:c.797T>C	XP_016863086.1:p.Val266Ala
XM_017007599.2:c.*88T>C	XP_016863088.1:n.*88T>C
XM_024453850.1:c.1280T>C	XP_024309618.1:p.Val427Ala
NM_001349178.2:c.1478T>C	NP_001336107.1:p.Val493Ala
NM_005108.4:c.1478T>C MANE Select	NP_005099.2:p.Val493Ala
NR_146068.2:n.1370T>C
NM_001349179.2:c.1067T>C	NP_001336108.1:p.Val356Ala