Canonical Allele Identifier: CA438057445

Gene: IDUA

Linked Data

• dbSNP Id: rs750930336
• gnomAD v3: 4-1002020-G-A
• gnomAD v4: 4-1002020-G-A
• MyVariant Identifiers: chr4:g.995808G>A (hg19)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000247933.9:c.831G>A	ENSP00000247933.4:p.Lys277=
ENST00000514224.2:c.831G>A MANE Select	ENSP00000425081.2:p.Lys277=
ENST00000652070.1:n.887G>A
ENST00000247933.8:c.831G>A	ENSP00000247933.4:p.Lys277=
ENST00000514192.5:c.648G>A	ENSP00000423685.1:p.Lys216=
ENST00000514224.1:c.435G>A	ENSP00000425081.1:p.Lys145=
ENST00000514698.5:n.831G>A
NM_000203.4:c.831G>A	NP_000194.2:p.Lys277=
NR_110313.1:n.919G>A
XM_006713882.2:c.435G>A	XP_006713945.1:p.Lys145=
XM_011513459.1:c.790G>A	XP_011511761.1:p.Gly264Ser
XM_011513460.1:c.690G>A	XP_011511762.1:p.Lys230=
XM_011513461.1:c.624G>A	XP_011511763.1:p.Lys208=
XM_011513462.1:c.543G>A	XP_011511764.1:p.Lys181=
XM_011513463.1:c.543G>A	XP_011511765.1:p.Lys181=
XR_924947.1:n.900G>A
NM_000203.5:c.831G>A MANE Select	NP_000194.2:p.Lys277=
NM_001363576.1:c.435G>A	NP_001350505.1:p.Lys145=
XM_011513461.2:c.624G>A	XP_011511763.1:p.Lys208=
XM_017008163.1:c.-130G>A	XP_016863652.1:n.-130G>A