Canonical Allele Identifier: CA355962874

Gene: IDUA

Linked Data

• MyVariant Identifiers: chr4:g.995947A>C (hg19) ; chr4:g.1002159A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002159A>C , CM000666.2:g.1002159A>C	GRCh38
NC_000004.11:g.995947A>C , CM000666.1:g.995947A>C	GRCh37
NC_000004.10:g.985947A>C	NCBI36
NG_008103.1:g.20163A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.970A>C	ENSP00000247933.4:p.Lys324Gln
ENST00000514224.2:c.970A>C MANE Select	ENSP00000425081.2:p.Lys324Gln
ENST00000652070.1:n.1026A>C
ENST00000247933.8:c.970A>C	ENSP00000247933.4:p.Lys324Gln
ENST00000514224.1:c.574A>C	ENSP00000425081.1:p.Lys192Gln
ENST00000514698.5:n.970A>C
NM_000203.4:c.970A>C	NP_000194.2:p.Lys324Gln
NR_110313.1:n.1058A>C
XM_006713882.2:c.574A>C	XP_006713945.1:p.Lys192Gln
XM_011513459.1:c.929A>C	XP_011511761.1:p.Glu310Ala
XM_011513460.1:c.829A>C	XP_011511762.1:p.Lys277Gln
XM_011513461.1:c.763A>C	XP_011511763.1:p.Lys255Gln
XM_011513462.1:c.682A>C	XP_011511764.1:p.Lys228Gln
XM_011513463.1:c.682A>C	XP_011511765.1:p.Lys228Gln
XR_924947.1:n.1039A>C
NM_000203.5:c.970A>C MANE Select	NP_000194.2:p.Lys324Gln
NM_001363576.1:c.574A>C	NP_001350505.1:p.Lys192Gln
XM_011513461.2:c.763A>C	XP_011511763.1:p.Lys255Gln
XM_017008163.1:c.10A>C	XP_016863652.1:p.Lys4Gln