Canonical Allele Identifier: CA355963299

Gene: IDUA

Linked Data

• gnomAD v4: 4-1002382-G-C
• MyVariant Identifiers: chr4:g.996170G>C (hg19) ; chr4:g.1002382G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002382G>C , CM000666.2:g.1002382G>C	GRCh38
NC_000004.11:g.996170G>C , CM000666.1:g.996170G>C	GRCh37
NC_000004.10:g.986170G>C	NCBI36
NG_008103.1:g.20386G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000247933.9:c.1086G>C	ENSP00000247933.4:p.Gln362His
ENST00000514224.2:c.1086G>C MANE Select	ENSP00000425081.2:p.Gln362His
ENST00000652070.1:n.1142G>C
ENST00000247933.8:c.1086G>C	ENSP00000247933.4:p.Gln362His
ENST00000514224.1:c.690G>C	ENSP00000425081.1:p.Gln230His
ENST00000514698.5:n.1193G>C
NM_000203.4:c.1086G>C	NP_000194.2:p.Gln362His
NR_110313.1:n.1174G>C
XM_006713882.2:c.690G>C	XP_006713945.1:p.Gln230His
XM_011513459.1:c.1152G>C	XP_011511761.1:p.Gln384His
XM_011513460.1:c.945G>C	XP_011511762.1:p.Gln315His
XM_011513461.1:c.879G>C	XP_011511763.1:p.Gln293His
XM_011513462.1:c.798G>C	XP_011511764.1:p.Gln266His
XM_011513463.1:c.798G>C	XP_011511765.1:p.Gln266His
XR_924947.1:n.1155G>C
NM_000203.5:c.1086G>C MANE Select	NP_000194.2:p.Gln362His
NM_001363576.1:c.690G>C	NP_001350505.1:p.Gln230His
XM_011513461.2:c.879G>C	XP_011511763.1:p.Gln293His
XM_017008163.1:c.126G>C	XP_016863652.1:p.Gln42His