Canonical Allele Identifier: CA352127456

Gene: XYLB

Linked Data

• MyVariant Identifiers: chr3:g.38442435A>T (hg19) ; chr3:g.38400944A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38400944A>T , CM000665.2:g.38400944A>T	GRCh38
NC_000003.11:g.38442435A>T , CM000665.1:g.38442435A>T	GRCh37
NC_000003.10:g.38417439A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000207870.8:c.1492A>T MANE Select	ENSP00000207870.3:p.Asn498Tyr
ENST00000649234.1:c.*727A>T	ENSP00000497023.1:n.*727A>T
ENST00000650590.1:c.1411A>T	ENSP00000496840.1:p.Asn471Tyr
ENST00000207870.7:c.1492A>T	ENSP00000207870.3:p.Asn498Tyr
ENST00000424034.5:c.*1155A>T	ENSP00000398845.1:n.*1155A>T
ENST00000472721.1:n.369A>T
NM_005108.3:c.1492A>T	NP_005099.2:p.Asn498Tyr
XM_011534325.1:c.1492A>T	XP_011532627.1:p.Asn498Tyr
XM_011534326.1:c.1411A>T	XP_011532628.1:p.Asn471Tyr
XM_011534327.1:c.1492A>T	XP_011532629.1:p.Asn498Tyr
XM_011534328.1:c.1492A>T	XP_011532630.1:p.Asn498Tyr
XM_011534329.1:c.1492A>T	XP_011532631.1:p.Asn498Tyr
XM_011534330.1:c.1492A>T	XP_011532632.1:p.Asn498Tyr
NM_001349178.1:c.1492A>T	NP_001336107.1:p.Asn498Tyr
NM_001349179.1:c.1081A>T	NP_001336108.1:p.Asn361Tyr
NR_146068.1:n.1409A>T
XM_011534325.3:c.1492A>T	XP_011532627.1:p.Asn498Tyr
XM_011534327.2:c.1492A>T	XP_011532629.1:p.Asn498Tyr
XM_011534328.3:c.1492A>T	XP_011532630.1:p.Asn498Tyr
XM_011534329.2:c.1492A>T	XP_011532631.1:p.Asn498Tyr
XM_011534330.3:c.1492A>T	XP_011532632.1:p.Asn498Tyr
XM_017007595.1:c.1081A>T	XP_016863084.1:p.Asn361Tyr
XM_017007596.1:c.1294A>T	XP_016863085.1:p.Asn432Tyr
XM_017007597.1:c.811A>T	XP_016863086.1:p.Asn271Tyr
XM_017007599.2:c.*102A>T	XP_016863088.1:n.*102A>T
XM_024453850.1:c.1294A>T	XP_024309618.1:p.Asn432Tyr
NM_001349178.2:c.1492A>T	NP_001336107.1:p.Asn498Tyr
NM_005108.4:c.1492A>T MANE Select	NP_005099.2:p.Asn498Tyr
NR_146068.2:n.1384A>T
NM_001349179.2:c.1081A>T	NP_001336108.1:p.Asn361Tyr