Canonical Allele Identifier: CA355963841

Gene: IDUA

Linked Data

• gnomAD v4: 4-1002834-C-T
• MyVariant Identifiers: chr4:g.996622C>T (hg19) ; chr4:g.1002834C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002834C>T , CM000666.2:g.1002834C>T	GRCh38
NC_000004.11:g.996622C>T , CM000666.1:g.996622C>T	GRCh37
NC_000004.10:g.986622C>T	NCBI36
NG_008103.1:g.20838C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1292C>T	ENSP00000247933.4:p.Ala431Val
ENST00000514224.2:c.1292C>T MANE Select	ENSP00000425081.2:p.Ala431Val
ENST00000652070.1:n.1348C>T
ENST00000247933.8:c.1292C>T	ENSP00000247933.4:p.Ala431Val
ENST00000502829.1:n.94C>T
ENST00000514224.1:c.896C>T	ENSP00000425081.1:p.Ala299Val
ENST00000514698.5:n.1399C>T
NM_000203.4:c.1292C>T	NP_000194.2:p.Ala431Val
NR_110313.1:n.1380C>T
XM_006713882.2:c.896C>T	XP_006713945.1:p.Ala299Val
XM_011513459.1:c.1358C>T	XP_011511761.1:p.Ala453Val
XM_011513460.1:c.1151C>T	XP_011511762.1:p.Ala384Val
XM_011513461.1:c.1085C>T	XP_011511763.1:p.Ala362Val
XM_011513462.1:c.1004C>T	XP_011511764.1:p.Ala335Val
XM_011513463.1:c.1004C>T	XP_011511765.1:p.Ala335Val
XR_924947.1:n.1361C>T
NM_000203.5:c.1292C>T MANE Select	NP_000194.2:p.Ala431Val
NM_001363576.1:c.896C>T	NP_001350505.1:p.Ala299Val
XM_011513461.2:c.1085C>T	XP_011511763.1:p.Ala362Val
XM_017008163.1:c.332C>T	XP_016863652.1:p.Ala111Val