Canonical Allele Identifier: CA352127209

Gene: XYLB

Linked Data

• MyVariant Identifiers: chr3:g.38442400A>C (hg19) ; chr3:g.38400909A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38400909A>C , CM000665.2:g.38400909A>C	GRCh38
NC_000003.11:g.38442400A>C , CM000665.1:g.38442400A>C	GRCh37
NC_000003.10:g.38417404A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000207870.8:c.1457A>C MANE Select	ENSP00000207870.3:p.Asp486Ala
ENST00000649234.1:c.*692A>C	ENSP00000497023.1:n.*692A>C
ENST00000650590.1:c.1376A>C	ENSP00000496840.1:p.Asp459Ala
ENST00000207870.7:c.1457A>C	ENSP00000207870.3:p.Asp486Ala
ENST00000424034.5:c.*1120A>C	ENSP00000398845.1:n.*1120A>C
ENST00000472721.1:n.334A>C
NM_005108.3:c.1457A>C	NP_005099.2:p.Asp486Ala
XM_011534325.1:c.1457A>C	XP_011532627.1:p.Asp486Ala
XM_011534326.1:c.1376A>C	XP_011532628.1:p.Asp459Ala
XM_011534327.1:c.1457A>C	XP_011532629.1:p.Asp486Ala
XM_011534328.1:c.1457A>C	XP_011532630.1:p.Asp486Ala
XM_011534329.1:c.1457A>C	XP_011532631.1:p.Asp486Ala
XM_011534330.1:c.1457A>C	XP_011532632.1:p.Asp486Ala
NM_001349178.1:c.1457A>C	NP_001336107.1:p.Asp486Ala
NM_001349179.1:c.1046A>C	NP_001336108.1:p.Asp349Ala
NR_146068.1:n.1374A>C
XM_011534325.3:c.1457A>C	XP_011532627.1:p.Asp486Ala
XM_011534327.2:c.1457A>C	XP_011532629.1:p.Asp486Ala
XM_011534328.3:c.1457A>C	XP_011532630.1:p.Asp486Ala
XM_011534329.2:c.1457A>C	XP_011532631.1:p.Asp486Ala
XM_011534330.3:c.1457A>C	XP_011532632.1:p.Asp486Ala
XM_017007595.1:c.1046A>C	XP_016863084.1:p.Asp349Ala
XM_017007596.1:c.1259A>C	XP_016863085.1:p.Asp420Ala
XM_017007597.1:c.776A>C	XP_016863086.1:p.Asp259Ala
XM_017007599.2:c.*67A>C	XP_016863088.1:n.*67A>C
XM_024453850.1:c.1259A>C	XP_024309618.1:p.Asp420Ala
NM_001349178.2:c.1457A>C	NP_001336107.1:p.Asp486Ala
NM_005108.4:c.1457A>C MANE Select	NP_005099.2:p.Asp486Ala
NR_146068.2:n.1349A>C
NM_001349179.2:c.1046A>C	NP_001336108.1:p.Asp349Ala