Canonical Allele Identifier: CA355962440

Gene: IDUA

Linked Data

• MyVariant Identifiers: chr4:g.995843A>C (hg19) ; chr4:g.1002055A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002055A>C , CM000666.2:g.1002055A>C	GRCh38
NC_000004.11:g.995843A>C , CM000666.1:g.995843A>C	GRCh37
NC_000004.10:g.985843A>C	NCBI36
NG_008103.1:g.20059A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.866A>C	ENSP00000247933.4:p.Lys289Thr
ENST00000514224.2:c.866A>C MANE Select	ENSP00000425081.2:p.Lys289Thr
ENST00000652070.1:n.922A>C
ENST00000247933.8:c.866A>C	ENSP00000247933.4:p.Lys289Thr
ENST00000514192.5:c.683A>C	ENSP00000423685.1:p.Lys228Thr
ENST00000514224.1:c.470A>C	ENSP00000425081.1:p.Lys157Thr
ENST00000514698.5:n.866A>C
NM_000203.4:c.866A>C	NP_000194.2:p.Lys289Thr
NR_110313.1:n.954A>C
XM_006713882.2:c.470A>C	XP_006713945.1:p.Lys157Thr
XM_011513459.1:c.825A>C	XP_011511761.1:p.Gln275His
XM_011513460.1:c.725A>C	XP_011511762.1:p.Lys242Thr
XM_011513461.1:c.659A>C	XP_011511763.1:p.Lys220Thr
XM_011513462.1:c.578A>C	XP_011511764.1:p.Lys193Thr
XM_011513463.1:c.578A>C	XP_011511765.1:p.Lys193Thr
XR_924947.1:n.935A>C
NM_000203.5:c.866A>C MANE Select	NP_000194.2:p.Lys289Thr
NM_001363576.1:c.470A>C	NP_001350505.1:p.Lys157Thr
XM_011513461.2:c.659A>C	XP_011511763.1:p.Lys220Thr
XM_017008163.1:c.-95A>C	XP_016863652.1:n.-95A>C