Canonical Allele Identifier: CA352127227

Gene: XYLB

Linked Data

• MyVariant Identifiers: chr3:g.38442402G>C (hg19) ; chr3:g.38400911G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38400911G>C , CM000665.2:g.38400911G>C	GRCh38
NC_000003.11:g.38442402G>C , CM000665.1:g.38442402G>C	GRCh37
NC_000003.10:g.38417406G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000207870.8:c.1459G>C MANE Select	ENSP00000207870.3:p.Val487Leu
ENST00000649234.1:c.*694G>C	ENSP00000497023.1:n.*694G>C
ENST00000650590.1:c.1378G>C	ENSP00000496840.1:p.Val460Leu
ENST00000207870.7:c.1459G>C	ENSP00000207870.3:p.Val487Leu
ENST00000424034.5:c.*1122G>C	ENSP00000398845.1:n.*1122G>C
ENST00000472721.1:n.336G>C
NM_005108.3:c.1459G>C	NP_005099.2:p.Val487Leu
XM_011534325.1:c.1459G>C	XP_011532627.1:p.Val487Leu
XM_011534326.1:c.1378G>C	XP_011532628.1:p.Val460Leu
XM_011534327.1:c.1459G>C	XP_011532629.1:p.Val487Leu
XM_011534328.1:c.1459G>C	XP_011532630.1:p.Val487Leu
XM_011534329.1:c.1459G>C	XP_011532631.1:p.Val487Leu
XM_011534330.1:c.1459G>C	XP_011532632.1:p.Val487Leu
NM_001349178.1:c.1459G>C	NP_001336107.1:p.Val487Leu
NM_001349179.1:c.1048G>C	NP_001336108.1:p.Val350Leu
NR_146068.1:n.1376G>C
XM_011534325.3:c.1459G>C	XP_011532627.1:p.Val487Leu
XM_011534327.2:c.1459G>C	XP_011532629.1:p.Val487Leu
XM_011534328.3:c.1459G>C	XP_011532630.1:p.Val487Leu
XM_011534329.2:c.1459G>C	XP_011532631.1:p.Val487Leu
XM_011534330.3:c.1459G>C	XP_011532632.1:p.Val487Leu
XM_017007595.1:c.1048G>C	XP_016863084.1:p.Val350Leu
XM_017007596.1:c.1261G>C	XP_016863085.1:p.Val421Leu
XM_017007597.1:c.778G>C	XP_016863086.1:p.Val260Leu
XM_017007599.2:c.*69G>C	XP_016863088.1:n.*69G>C
XM_024453850.1:c.1261G>C	XP_024309618.1:p.Val421Leu
NM_001349178.2:c.1459G>C	NP_001336107.1:p.Val487Leu
NM_005108.4:c.1459G>C MANE Select	NP_005099.2:p.Val487Leu
NR_146068.2:n.1351G>C
NM_001349179.2:c.1048G>C	NP_001336108.1:p.Val350Leu