Canonical Allele Identifier: CA433126648
Gene: XYLB HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.38442383T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.38400892T>G , CM000665.2:g.38400892T>G GRCh38
NC_000003.11:g.38442383T>G , CM000665.1:g.38442383T>G GRCh37
NC_000003.10:g.38417387T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000207870.8:c.1440T>G MANE Select ENSP00000207870.3:p.Gly480=
ENST00000649234.1:c.*675T>G ENSP00000497023.1:n.*675T>G
ENST00000650590.1:c.1359T>G ENSP00000496840.1:p.Gly453=
ENST00000207870.7:c.1440T>G ENSP00000207870.3:p.Gly480=
ENST00000424034.5:c.*1103T>G ENSP00000398845.1:n.*1103T>G
ENST00000472721.1:n.317T>G
NM_005108.3:c.1440T>G NP_005099.2:p.Gly480=
XM_011534325.1:c.1440T>G XP_011532627.1:p.Gly480=
XM_011534326.1:c.1359T>G XP_011532628.1:p.Gly453=
XM_011534327.1:c.1440T>G XP_011532629.1:p.Gly480=
XM_011534328.1:c.1440T>G XP_011532630.1:p.Gly480=
XM_011534329.1:c.1440T>G XP_011532631.1:p.Gly480=
XM_011534330.1:c.1440T>G XP_011532632.1:p.Gly480=
NM_001349178.1:c.1440T>G NP_001336107.1:p.Gly480=
NM_001349179.1:c.1029T>G NP_001336108.1:p.Gly343=
NR_146068.1:n.1357T>G
XM_011534325.3:c.1440T>G XP_011532627.1:p.Gly480=
XM_011534327.2:c.1440T>G XP_011532629.1:p.Gly480=
XM_011534328.3:c.1440T>G XP_011532630.1:p.Gly480=
XM_011534329.2:c.1440T>G XP_011532631.1:p.Gly480=
XM_011534330.3:c.1440T>G XP_011532632.1:p.Gly480=
XM_017007595.1:c.1029T>G XP_016863084.1:p.Gly343=
XM_017007596.1:c.1242T>G XP_016863085.1:p.Gly414=
XM_017007597.1:c.759T>G XP_016863086.1:p.Gly253=
XM_017007599.2:c.*50T>G XP_016863088.1:n.*50T>G
XM_024453850.1:c.1242T>G XP_024309618.1:p.Gly414=
NM_001349178.2:c.1440T>G NP_001336107.1:p.Gly480=
NM_005108.4:c.1440T>G MANE Select NP_005099.2:p.Gly480=
NR_146068.2:n.1332T>G
NM_001349179.2:c.1029T>G NP_001336108.1:p.Gly343=