Canonical Allele Identifier: CA355962365

Gene: IDUA

Linked Data

• gnomAD v4: 4-1002019-A-C
• MyVariant Identifiers: chr4:g.995807A>C (hg19) ; chr4:g.1002019A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002019A>C , CM000666.2:g.1002019A>C	GRCh38
NC_000004.11:g.995807A>C , CM000666.1:g.995807A>C	GRCh37
NC_000004.10:g.985807A>C	NCBI36
NG_008103.1:g.20023A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000247933.9:c.830A>C	ENSP00000247933.4:p.Lys277Thr
ENST00000514224.2:c.830A>C MANE Select	ENSP00000425081.2:p.Lys277Thr
ENST00000652070.1:n.886A>C
ENST00000247933.8:c.830A>C	ENSP00000247933.4:p.Lys277Thr
ENST00000514192.5:c.647A>C	ENSP00000423685.1:p.Lys216Thr
ENST00000514224.1:c.434A>C	ENSP00000425081.1:p.Lys145Thr
ENST00000514698.5:n.830A>C
NM_000203.4:c.830A>C	NP_000194.2:p.Lys277Thr
NR_110313.1:n.918A>C
XM_006713882.2:c.434A>C	XP_006713945.1:p.Lys145Thr
XM_011513459.1:c.789A>C	XP_011511761.1:p.Glu263Asp
XM_011513460.1:c.689A>C	XP_011511762.1:p.Lys230Thr
XM_011513461.1:c.623A>C	XP_011511763.1:p.Lys208Thr
XM_011513462.1:c.542A>C	XP_011511764.1:p.Lys181Thr
XM_011513463.1:c.542A>C	XP_011511765.1:p.Lys181Thr
XR_924947.1:n.899A>C
NM_000203.5:c.830A>C MANE Select	NP_000194.2:p.Lys277Thr
NM_001363576.1:c.434A>C	NP_001350505.1:p.Lys145Thr
XM_011513461.2:c.623A>C	XP_011511763.1:p.Lys208Thr
XM_017008163.1:c.-131A>C	XP_016863652.1:n.-131A>C