Canonical Allele Identifier: CA2318602

Gene: XYLB

Linked Data

• dbSNP Id: rs146998254
• ExAC: 3:38442397 C / G
• gnomAD v2: 3-38442397-C-G
• gnomAD v3: 3-38400906-C-G
• gnomAD v4: 3-38400906-C-G
• MyVariant Identifiers: chr3:g.38442397C>G (hg19) ; chr3:g.38400906C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38400906C>G , CM000665.2:g.38400906C>G	GRCh38
NC_000003.11:g.38442397C>G , CM000665.1:g.38442397C>G	GRCh37
NC_000003.10:g.38417401C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000207870.8:c.1454C>G MANE Select	ENSP00000207870.3:p.Thr485Arg
ENST00000649234.1:c.*689C>G	ENSP00000497023.1:n.*689C>G
ENST00000650590.1:c.1373C>G	ENSP00000496840.1:p.Thr458Arg
ENST00000207870.7:c.1454C>G	ENSP00000207870.3:p.Thr485Arg
ENST00000424034.5:c.*1117C>G	ENSP00000398845.1:n.*1117C>G
ENST00000472721.1:n.331C>G
NM_005108.3:c.1454C>G	NP_005099.2:p.Thr485Arg
XM_011534325.1:c.1454C>G	XP_011532627.1:p.Thr485Arg
XM_011534326.1:c.1373C>G	XP_011532628.1:p.Thr458Arg
XM_011534327.1:c.1454C>G	XP_011532629.1:p.Thr485Arg
XM_011534328.1:c.1454C>G	XP_011532630.1:p.Thr485Arg
XM_011534329.1:c.1454C>G	XP_011532631.1:p.Thr485Arg
XM_011534330.1:c.1454C>G	XP_011532632.1:p.Thr485Arg
NM_001349178.1:c.1454C>G	NP_001336107.1:p.Thr485Arg
NM_001349179.1:c.1043C>G	NP_001336108.1:p.Thr348Arg
NR_146068.1:n.1371C>G
XM_011534325.3:c.1454C>G	XP_011532627.1:p.Thr485Arg
XM_011534327.2:c.1454C>G	XP_011532629.1:p.Thr485Arg
XM_011534328.3:c.1454C>G	XP_011532630.1:p.Thr485Arg
XM_011534329.2:c.1454C>G	XP_011532631.1:p.Thr485Arg
XM_011534330.3:c.1454C>G	XP_011532632.1:p.Thr485Arg
XM_017007595.1:c.1043C>G	XP_016863084.1:p.Thr348Arg
XM_017007596.1:c.1256C>G	XP_016863085.1:p.Thr419Arg
XM_017007597.1:c.773C>G	XP_016863086.1:p.Thr258Arg
XM_017007599.2:c.*64C>G	XP_016863088.1:n.*64C>G
XM_024453850.1:c.1256C>G	XP_024309618.1:p.Thr419Arg
NM_001349178.2:c.1454C>G	NP_001336107.1:p.Thr485Arg
NM_005108.4:c.1454C>G MANE Select	NP_005099.2:p.Thr485Arg
NR_146068.2:n.1346C>G
NM_001349179.2:c.1043C>G	NP_001336108.1:p.Thr348Arg