Canonical Allele Identifier: CA72915487

Gene: XYLB

Linked Data

• dbSNP Id: rs750495644
• gnomAD v3: 3-38401012-A-C
• gnomAD v4: 3-38401012-A-C
• MyVariant Identifiers: chr3:g.38442503A>C (hg19) ; chr3:g.38401012A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38401012A>C , CM000665.2:g.38401012A>C	GRCh38
NC_000003.11:g.38442503A>C , CM000665.1:g.38442503A>C	GRCh37
NC_000003.10:g.38417507A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000207870.8:c.1533+27A>C MANE Select	ENSP00000207870.3:n.1533+27A>C
ENST00000649234.1:c.*768+27A>C	ENSP00000497023.1:n.*768+27A>C
ENST00000650590.1:c.1452+27A>C	ENSP00000496840.1:n.1452+27A>C
ENST00000207870.7:c.1533+27A>C	ENSP00000207870.3:n.1533+27A>C
ENST00000424034.5:c.*1196+27A>C	ENSP00000398845.1:n.*1196+27A>C
ENST00000472721.1:n.410+27A>C
NM_005108.3:c.1533+27A>C	NP_005099.2:n.1533+27A>C
XM_011534325.1:c.1533+27A>C	XP_011532627.1:n.1533+27A>C
XM_011534326.1:c.1452+27A>C	XP_011532628.1:n.1452+27A>C
XM_011534327.1:c.1533+27A>C	XP_011532629.1:n.1533+27A>C
XM_011534328.1:c.1533+27A>C	XP_011532630.1:n.1533+27A>C
XM_011534329.1:c.1533+27A>C	XP_011532631.1:n.1533+27A>C
XM_011534330.1:c.1533+27A>C	XP_011532632.1:n.1533+27A>C
NM_001349178.1:c.1533+27A>C	NP_001336107.1:n.1533+27A>C
NM_001349179.1:c.1122+27A>C	NP_001336108.1:n.1122+27A>C
NR_146068.1:n.1450+27A>C
XM_011534325.3:c.1533+27A>C	XP_011532627.1:n.1533+27A>C
XM_011534327.2:c.1533+27A>C	XP_011532629.1:n.1533+27A>C
XM_011534328.3:c.1533+27A>C	XP_011532630.1:n.1533+27A>C
XM_011534329.2:c.1533+27A>C	XP_011532631.1:n.1533+27A>C
XM_011534330.3:c.1533+27A>C	XP_011532632.1:n.1533+27A>C
XM_017007595.1:c.1122+27A>C	XP_016863084.1:n.1122+27A>C
XM_017007596.1:c.1335+27A>C	XP_016863085.1:n.1335+27A>C
XM_017007597.1:c.852+27A>C	XP_016863086.1:n.852+27A>C
XM_024453850.1:c.1335+27A>C	XP_024309618.1:n.1335+27A>C
NM_001349178.2:c.1533+27A>C	NP_001336107.1:n.1533+27A>C
NM_005108.4:c.1533+27A>C MANE Select	NP_005099.2:n.1533+27A>C
NR_146068.2:n.1425+27A>C
NM_001349179.2:c.1122+27A>C	NP_001336108.1:n.1122+27A>C