Canonical Allele Identifier: CA91170697

Gene: IDUA

Linked Data

• dbSNP Id: rs1009855015
• gnomAD v4: 4-1003387-C-T
• MyVariant Identifiers: chr4:g.997175C>T (hg19) ; chr4:g.1003387C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003387C>T , CM000666.2:g.1003387C>T	GRCh38
NC_000004.11:g.997175C>T , CM000666.1:g.997175C>T	GRCh37
NC_000004.10:g.987175C>T	NCBI36
NG_008103.1:g.21391C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1567C>T	ENSP00000247933.4:p.Arg523Cys
ENST00000514224.2:c.1567C>T MANE Select	ENSP00000425081.2:p.Arg523Cys
ENST00000652070.1:n.1623C>T
ENST00000247933.8:c.1567C>T	ENSP00000247933.4:p.Arg523Cys
ENST00000502829.1:n.556C>T
ENST00000514224.1:c.1171C>T	ENSP00000425081.1:p.Arg391Cys
ENST00000514698.5:n.1674C>T
NM_000203.4:c.1567C>T	NP_000194.2:p.Arg523Cys
NR_110313.1:n.1655C>T
XM_006713882.2:c.1171C>T	XP_006713945.1:p.Arg391Cys
XM_011513459.1:c.1633C>T	XP_011511761.1:p.Arg545Cys
XM_011513460.1:c.1426C>T	XP_011511762.1:p.Arg476Cys
XM_011513461.1:c.1360C>T	XP_011511763.1:p.Arg454Cys
XM_011513462.1:c.1279C>T	XP_011511764.1:p.Arg427Cys
XM_011513463.1:c.1279C>T	XP_011511765.1:p.Arg427Cys
XR_924947.1:n.1823C>T
NM_000203.5:c.1567C>T MANE Select	NP_000194.2:p.Arg523Cys
NM_001363576.1:c.1171C>T	NP_001350505.1:p.Arg391Cys
XM_011513461.2:c.1360C>T	XP_011511763.1:p.Arg454Cys
XM_017008163.1:c.607C>T	XP_016863652.1:p.Arg203Cys