Canonical Allele Identifier: CA355962879

Gene: IDUA

Linked Data

• MyVariant Identifiers: chr4:g.995948A>C (hg19) ; chr4:g.1002160A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002160A>C , CM000666.2:g.1002160A>C	GRCh38
NC_000004.11:g.995948A>C , CM000666.1:g.995948A>C	GRCh37
NC_000004.10:g.985948A>C	NCBI36
NG_008103.1:g.20164A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.971A>C	ENSP00000247933.4:p.Lys324Thr
ENST00000514224.2:c.971A>C MANE Select	ENSP00000425081.2:p.Lys324Thr
ENST00000652070.1:n.1027A>C
ENST00000247933.8:c.971A>C	ENSP00000247933.4:p.Lys324Thr
ENST00000514224.1:c.575A>C	ENSP00000425081.1:p.Lys192Thr
ENST00000514698.5:n.971A>C
NM_000203.4:c.971A>C	NP_000194.2:p.Lys324Thr
NR_110313.1:n.1059A>C
XM_006713882.2:c.575A>C	XP_006713945.1:p.Lys192Thr
XM_011513459.1:c.930A>C	XP_011511761.1:p.Glu310Asp
XM_011513460.1:c.830A>C	XP_011511762.1:p.Lys277Thr
XM_011513461.1:c.764A>C	XP_011511763.1:p.Lys255Thr
XM_011513462.1:c.683A>C	XP_011511764.1:p.Lys228Thr
XM_011513463.1:c.683A>C	XP_011511765.1:p.Lys228Thr
XR_924947.1:n.1040A>C
NM_000203.5:c.971A>C MANE Select	NP_000194.2:p.Lys324Thr
NM_001363576.1:c.575A>C	NP_001350505.1:p.Lys192Thr
XM_011513461.2:c.764A>C	XP_011511763.1:p.Lys255Thr
XM_017008163.1:c.11A>C	XP_016863652.1:p.Lys4Thr