Canonical Allele Identifier: CA355963516

Gene: IDUA

Linked Data

• gnomAD v4: 4-1002732-A-C
• MyVariant Identifiers: chr4:g.996520A>C (hg19) ; chr4:g.1002732A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002732A>C , CM000666.2:g.1002732A>C	GRCh38
NC_000004.11:g.996520A>C , CM000666.1:g.996520A>C	GRCh37
NC_000004.10:g.986520A>C	NCBI36
NG_008103.1:g.20736A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1190A>C	ENSP00000247933.4:p.Asp397Ala
ENST00000514224.2:c.1190A>C MANE Select	ENSP00000425081.2:p.Asp397Ala
ENST00000652070.1:n.1246A>C
ENST00000247933.8:c.1190A>C	ENSP00000247933.4:p.Asp397Ala
ENST00000514224.1:c.794A>C	ENSP00000425081.1:p.Asp265Ala
ENST00000514698.5:n.1297A>C
NM_000203.4:c.1190A>C	NP_000194.2:p.Asp397Ala
NR_110313.1:n.1278A>C
XM_006713882.2:c.794A>C	XP_006713945.1:p.Asp265Ala
XM_011513459.1:c.1256A>C	XP_011511761.1:p.Asp419Ala
XM_011513460.1:c.1049A>C	XP_011511762.1:p.Asp350Ala
XM_011513461.1:c.983A>C	XP_011511763.1:p.Asp328Ala
XM_011513462.1:c.902A>C	XP_011511764.1:p.Asp301Ala
XM_011513463.1:c.902A>C	XP_011511765.1:p.Asp301Ala
XR_924947.1:n.1259A>C
NM_000203.5:c.1190A>C MANE Select	NP_000194.2:p.Asp397Ala
NM_001363576.1:c.794A>C	NP_001350505.1:p.Asp265Ala
XM_011513461.2:c.983A>C	XP_011511763.1:p.Asp328Ala
XM_017008163.1:c.230A>C	XP_016863652.1:p.Asp77Ala