Canonical Allele Identifier: CA2318623
Gene: XYLB HGNC NCBI

Linked Data

dbSNP Id: rs2070488
gnomAD v2: 3-38442490-G-A
gnomAD v3: 3-38400999-G-A
gnomAD v4: 3-38400999-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.38400999G>A , CM000665.2:g.38400999G>A GRCh38
NC_000003.11:g.38442490G>A , CM000665.1:g.38442490G>A GRCh37
NC_000003.10:g.38417494G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000207870.8:c.1533+14G>A MANE Select ENSP00000207870.3:n.1533+14G>A
ENST00000649234.1:c.*768+14G>A ENSP00000497023.1:n.*768+14G>A
ENST00000650590.1:c.1452+14G>A ENSP00000496840.1:n.1452+14G>A
ENST00000207870.7:c.1533+14G>A ENSP00000207870.3:n.1533+14G>A
ENST00000424034.5:c.*1196+14G>A ENSP00000398845.1:n.*1196+14G>A
ENST00000472721.1:n.410+14G>A
NM_005108.3:c.1533+14G>A NP_005099.2:n.1533+14G>A
XM_011534325.1:c.1533+14G>A XP_011532627.1:n.1533+14G>A
XM_011534326.1:c.1452+14G>A XP_011532628.1:n.1452+14G>A
XM_011534327.1:c.1533+14G>A XP_011532629.1:n.1533+14G>A
XM_011534328.1:c.1533+14G>A XP_011532630.1:n.1533+14G>A
XM_011534329.1:c.1533+14G>A XP_011532631.1:n.1533+14G>A
XM_011534330.1:c.1533+14G>A XP_011532632.1:n.1533+14G>A
NM_001349178.1:c.1533+14G>A NP_001336107.1:n.1533+14G>A
NM_001349179.1:c.1122+14G>A NP_001336108.1:n.1122+14G>A
NR_146068.1:n.1450+14G>A
XM_011534325.3:c.1533+14G>A XP_011532627.1:n.1533+14G>A
XM_011534327.2:c.1533+14G>A XP_011532629.1:n.1533+14G>A
XM_011534328.3:c.1533+14G>A XP_011532630.1:n.1533+14G>A
XM_011534329.2:c.1533+14G>A XP_011532631.1:n.1533+14G>A
XM_011534330.3:c.1533+14G>A XP_011532632.1:n.1533+14G>A
XM_017007595.1:c.1122+14G>A XP_016863084.1:n.1122+14G>A
XM_017007596.1:c.1335+14G>A XP_016863085.1:n.1335+14G>A
XM_017007597.1:c.852+14G>A XP_016863086.1:n.852+14G>A
XM_024453850.1:c.1335+14G>A XP_024309618.1:n.1335+14G>A
NM_001349178.2:c.1533+14G>A NP_001336107.1:n.1533+14G>A
NM_005108.4:c.1533+14G>A MANE Select NP_005099.2:n.1533+14G>A
NR_146068.2:n.1425+14G>A
NM_001349179.2:c.1122+14G>A NP_001336108.1:n.1122+14G>A