Canonical Allele Identifier: CA2802156

Gene: IDUA

Linked Data

• ClinVar Variation Id: 2914410
• ClinVar RCV Id: RCV003756543
• dbSNP Id: rs746606129
• ExAC: 4:996068 G / C
• gnomAD v2: 4-996068-G-C
• gnomAD v4: 4-1002280-G-C
• MyVariant Identifiers: chr4:g.996068G>C (hg19) ; chr4:g.1002280G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002280G>C , CM000666.2:g.1002280G>C	GRCh38
NC_000004.11:g.996068G>C , CM000666.1:g.996068G>C	GRCh37
NC_000004.10:g.986068G>C	NCBI36
NG_008103.1:g.20284G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000247933.9:c.984G>C	ENSP00000247933.4:p.Gln328His
ENST00000514224.2:c.984G>C MANE Select	ENSP00000425081.2:p.Gln328His
ENST00000652070.1:n.1040G>C
ENST00000247933.8:c.984G>C	ENSP00000247933.4:p.Gln328His
ENST00000514224.1:c.588G>C	ENSP00000425081.1:p.Gln196His
ENST00000514698.5:n.1091G>C
NM_000203.4:c.984G>C	NP_000194.2:p.Gln328His
NR_110313.1:n.1072G>C
XM_006713882.2:c.588G>C	XP_006713945.1:p.Gln196His
XM_011513459.1:c.1050G>C	XP_011511761.1:p.Gln350His
XM_011513460.1:c.843G>C	XP_011511762.1:p.Gln281His
XM_011513461.1:c.777G>C	XP_011511763.1:p.Gln259His
XM_011513462.1:c.696G>C	XP_011511764.1:p.Gln232His
XM_011513463.1:c.696G>C	XP_011511765.1:p.Gln232His
XR_924947.1:n.1053G>C
NM_000203.5:c.984G>C MANE Select	NP_000194.2:p.Gln328His
NM_001363576.1:c.588G>C	NP_001350505.1:p.Gln196His
XM_011513461.2:c.777G>C	XP_011511763.1:p.Gln259His
XM_017008163.1:c.24G>C	XP_016863652.1:p.Gln8His