Canonical Allele Identifier: CA355962368

Gene: IDUA

Linked Data

• MyVariant Identifiers: chr4:g.995808G>T (hg19) ; chr4:g.1002020G>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000247933.9:c.831G>T	ENSP00000247933.4:p.Lys277Asn
ENST00000514224.2:c.831G>T MANE Select	ENSP00000425081.2:p.Lys277Asn
ENST00000652070.1:n.887G>T
ENST00000247933.8:c.831G>T	ENSP00000247933.4:p.Lys277Asn
ENST00000514192.5:c.648G>T	ENSP00000423685.1:p.Lys216Asn
ENST00000514224.1:c.435G>T	ENSP00000425081.1:p.Lys145Asn
ENST00000514698.5:n.831G>T
NM_000203.4:c.831G>T	NP_000194.2:p.Lys277Asn
NR_110313.1:n.919G>T
XM_006713882.2:c.435G>T	XP_006713945.1:p.Lys145Asn
XM_011513459.1:c.790G>T	XP_011511761.1:p.Gly264Cys
XM_011513460.1:c.690G>T	XP_011511762.1:p.Lys230Asn
XM_011513461.1:c.624G>T	XP_011511763.1:p.Lys208Asn
XM_011513462.1:c.543G>T	XP_011511764.1:p.Lys181Asn
XM_011513463.1:c.543G>T	XP_011511765.1:p.Lys181Asn
XR_924947.1:n.900G>T
NM_000203.5:c.831G>T MANE Select	NP_000194.2:p.Lys277Asn
NM_001363576.1:c.435G>T	NP_001350505.1:p.Lys145Asn
XM_011513461.2:c.624G>T	XP_011511763.1:p.Lys208Asn
XM_017008163.1:c.-130G>T	XP_016863652.1:n.-130G>T