Canonical Allele Identifier: CA2802105

Gene: IDUA

Linked Data

• dbSNP Id: rs750930336
• ExAC: 4:995808 G / C
• gnomAD v2: 4-995808-G-C
• gnomAD v3: 4-1002020-G-C
• gnomAD v4: 4-1002020-G-C
• MyVariant Identifiers: chr4:g.995808G>C (hg19) ; chr4:g.1002020G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002020G>C , CM000666.2:g.1002020G>C	GRCh38
NC_000004.11:g.995808G>C , CM000666.1:g.995808G>C	GRCh37
NC_000004.10:g.985808G>C	NCBI36
NG_008103.1:g.20024G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.831G>C	ENSP00000247933.4:p.Lys277Asn
ENST00000514224.2:c.831G>C MANE Select	ENSP00000425081.2:p.Lys277Asn
ENST00000652070.1:n.887G>C
ENST00000247933.8:c.831G>C	ENSP00000247933.4:p.Lys277Asn
ENST00000514192.5:c.648G>C	ENSP00000423685.1:p.Lys216Asn
ENST00000514224.1:c.435G>C	ENSP00000425081.1:p.Lys145Asn
ENST00000514698.5:n.831G>C
NM_000203.4:c.831G>C	NP_000194.2:p.Lys277Asn
NR_110313.1:n.919G>C
XM_006713882.2:c.435G>C	XP_006713945.1:p.Lys145Asn
XM_011513459.1:c.790G>C	XP_011511761.1:p.Gly264Arg
XM_011513460.1:c.690G>C	XP_011511762.1:p.Lys230Asn
XM_011513461.1:c.624G>C	XP_011511763.1:p.Lys208Asn
XM_011513462.1:c.543G>C	XP_011511764.1:p.Lys181Asn
XM_011513463.1:c.543G>C	XP_011511765.1:p.Lys181Asn
XR_924947.1:n.900G>C
NM_000203.5:c.831G>C MANE Select	NP_000194.2:p.Lys277Asn
NM_001363576.1:c.435G>C	NP_001350505.1:p.Lys145Asn
XM_011513461.2:c.624G>C	XP_011511763.1:p.Lys208Asn
XM_017008163.1:c.-130G>C	XP_016863652.1:n.-130G>C