Canonical Allele Identifier: CA352127693

Gene: XYLB

Linked Data

• MyVariant Identifiers: chr3:g.38442472C>A (hg19) ; chr3:g.38400981C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38400981C>A , CM000665.2:g.38400981C>A	GRCh38
NC_000003.11:g.38442472C>A , CM000665.1:g.38442472C>A	GRCh37
NC_000003.10:g.38417476C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000207870.8:c.1529C>A MANE Select	ENSP00000207870.3:p.Ser510Tyr
ENST00000649234.1:c.*764C>A	ENSP00000497023.1:n.*764C>A
ENST00000650590.1:c.1448C>A	ENSP00000496840.1:p.Ser483Tyr
ENST00000207870.7:c.1529C>A	ENSP00000207870.3:p.Ser510Tyr
ENST00000424034.5:c.*1192C>A	ENSP00000398845.1:n.*1192C>A
ENST00000472721.1:n.406C>A
NM_005108.3:c.1529C>A	NP_005099.2:p.Ser510Tyr
XM_011534325.1:c.1529C>A	XP_011532627.1:p.Ser510Tyr
XM_011534326.1:c.1448C>A	XP_011532628.1:p.Ser483Tyr
XM_011534327.1:c.1529C>A	XP_011532629.1:p.Ser510Tyr
XM_011534328.1:c.1529C>A	XP_011532630.1:p.Ser510Tyr
XM_011534329.1:c.1529C>A	XP_011532631.1:p.Ser510Tyr
XM_011534330.1:c.1529C>A	XP_011532632.1:p.Ser510Tyr
NM_001349178.1:c.1529C>A	NP_001336107.1:p.Ser510Tyr
NM_001349179.1:c.1118C>A	NP_001336108.1:p.Ser373Tyr
NR_146068.1:n.1446C>A
XM_011534325.3:c.1529C>A	XP_011532627.1:p.Ser510Tyr
XM_011534327.2:c.1529C>A	XP_011532629.1:p.Ser510Tyr
XM_011534328.3:c.1529C>A	XP_011532630.1:p.Ser510Tyr
XM_011534329.2:c.1529C>A	XP_011532631.1:p.Ser510Tyr
XM_011534330.3:c.1529C>A	XP_011532632.1:p.Ser510Tyr
XM_017007595.1:c.1118C>A	XP_016863084.1:p.Ser373Tyr
XM_017007596.1:c.1331C>A	XP_016863085.1:p.Ser444Tyr
XM_017007597.1:c.848C>A	XP_016863086.1:p.Ser283Tyr
XM_017007599.2:c.*139C>A	XP_016863088.1:n.*139C>A
XM_024453850.1:c.1331C>A	XP_024309618.1:p.Ser444Tyr
NM_001349178.2:c.1529C>A	NP_001336107.1:p.Ser510Tyr
NM_005108.4:c.1529C>A MANE Select	NP_005099.2:p.Ser510Tyr
NR_146068.2:n.1421C>A
NM_001349179.2:c.1118C>A	NP_001336108.1:p.Ser373Tyr