Canonical Allele Identifier: CA352127650

Gene: XYLB

Linked Data

• MyVariant Identifiers: chr3:g.38442466G>C (hg19) ; chr3:g.38400975G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38400975G>C , CM000665.2:g.38400975G>C	GRCh38
NC_000003.11:g.38442466G>C , CM000665.1:g.38442466G>C	GRCh37
NC_000003.10:g.38417470G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000207870.8:c.1523G>C MANE Select	ENSP00000207870.3:p.Gly508Ala
ENST00000649234.1:c.*758G>C	ENSP00000497023.1:n.*758G>C
ENST00000650590.1:c.1442G>C	ENSP00000496840.1:p.Gly481Ala
ENST00000207870.7:c.1523G>C	ENSP00000207870.3:p.Gly508Ala
ENST00000424034.5:c.*1186G>C	ENSP00000398845.1:n.*1186G>C
ENST00000472721.1:n.400G>C
NM_005108.3:c.1523G>C	NP_005099.2:p.Gly508Ala
XM_011534325.1:c.1523G>C	XP_011532627.1:p.Gly508Ala
XM_011534326.1:c.1442G>C	XP_011532628.1:p.Gly481Ala
XM_011534327.1:c.1523G>C	XP_011532629.1:p.Gly508Ala
XM_011534328.1:c.1523G>C	XP_011532630.1:p.Gly508Ala
XM_011534329.1:c.1523G>C	XP_011532631.1:p.Gly508Ala
XM_011534330.1:c.1523G>C	XP_011532632.1:p.Gly508Ala
NM_001349178.1:c.1523G>C	NP_001336107.1:p.Gly508Ala
NM_001349179.1:c.1112G>C	NP_001336108.1:p.Gly371Ala
NR_146068.1:n.1440G>C
XM_011534325.3:c.1523G>C	XP_011532627.1:p.Gly508Ala
XM_011534327.2:c.1523G>C	XP_011532629.1:p.Gly508Ala
XM_011534328.3:c.1523G>C	XP_011532630.1:p.Gly508Ala
XM_011534329.2:c.1523G>C	XP_011532631.1:p.Gly508Ala
XM_011534330.3:c.1523G>C	XP_011532632.1:p.Gly508Ala
XM_017007595.1:c.1112G>C	XP_016863084.1:p.Gly371Ala
XM_017007596.1:c.1325G>C	XP_016863085.1:p.Gly442Ala
XM_017007597.1:c.842G>C	XP_016863086.1:p.Gly281Ala
XM_017007599.2:c.*133G>C	XP_016863088.1:n.*133G>C
XM_024453850.1:c.1325G>C	XP_024309618.1:p.Gly442Ala
NM_001349178.2:c.1523G>C	NP_001336107.1:p.Gly508Ala
NM_005108.4:c.1523G>C MANE Select	NP_005099.2:p.Gly508Ala
NR_146068.2:n.1415G>C
NM_001349179.2:c.1112G>C	NP_001336108.1:p.Gly371Ala