Canonical Allele Identifier: CA352127437

Gene: XYLB

Linked Data

• dbSNP Id: rs1708097533
• gnomAD v3: 3-38400938-G-C
• gnomAD v4: 3-38400938-G-C
• MyVariant Identifiers: chr3:g.38442429G>C (hg19) ; chr3:g.38400938G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38400938G>C , CM000665.2:g.38400938G>C	GRCh38
NC_000003.11:g.38442429G>C , CM000665.1:g.38442429G>C	GRCh37
NC_000003.10:g.38417433G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000207870.8:c.1486G>C MANE Select	ENSP00000207870.3:p.Ala496Pro
ENST00000649234.1:c.*721G>C	ENSP00000497023.1:n.*721G>C
ENST00000650590.1:c.1405G>C	ENSP00000496840.1:p.Ala469Pro
ENST00000207870.7:c.1486G>C	ENSP00000207870.3:p.Ala496Pro
ENST00000424034.5:c.*1149G>C	ENSP00000398845.1:n.*1149G>C
ENST00000472721.1:n.363G>C
NM_005108.3:c.1486G>C	NP_005099.2:p.Ala496Pro
XM_011534325.1:c.1486G>C	XP_011532627.1:p.Ala496Pro
XM_011534326.1:c.1405G>C	XP_011532628.1:p.Ala469Pro
XM_011534327.1:c.1486G>C	XP_011532629.1:p.Ala496Pro
XM_011534328.1:c.1486G>C	XP_011532630.1:p.Ala496Pro
XM_011534329.1:c.1486G>C	XP_011532631.1:p.Ala496Pro
XM_011534330.1:c.1486G>C	XP_011532632.1:p.Ala496Pro
NM_001349178.1:c.1486G>C	NP_001336107.1:p.Ala496Pro
NM_001349179.1:c.1075G>C	NP_001336108.1:p.Ala359Pro
NR_146068.1:n.1403G>C
XM_011534325.3:c.1486G>C	XP_011532627.1:p.Ala496Pro
XM_011534327.2:c.1486G>C	XP_011532629.1:p.Ala496Pro
XM_011534328.3:c.1486G>C	XP_011532630.1:p.Ala496Pro
XM_011534329.2:c.1486G>C	XP_011532631.1:p.Ala496Pro
XM_011534330.3:c.1486G>C	XP_011532632.1:p.Ala496Pro
XM_017007595.1:c.1075G>C	XP_016863084.1:p.Ala359Pro
XM_017007596.1:c.1288G>C	XP_016863085.1:p.Ala430Pro
XM_017007597.1:c.805G>C	XP_016863086.1:p.Ala269Pro
XM_017007599.2:c.*96G>C	XP_016863088.1:n.*96G>C
XM_024453850.1:c.1288G>C	XP_024309618.1:p.Ala430Pro
NM_001349178.2:c.1486G>C	NP_001336107.1:p.Ala496Pro
NM_005108.4:c.1486G>C MANE Select	NP_005099.2:p.Ala496Pro
NR_146068.2:n.1378G>C
NM_001349179.2:c.1075G>C	NP_001336108.1:p.Ala359Pro