Canonical Allele Identifier: CA355962883

Gene: IDUA

Linked Data

• MyVariant Identifiers: chr4:g.995949G>C (hg19) ; chr4:g.1002161G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002161G>C , CM000666.2:g.1002161G>C	GRCh38
NC_000004.11:g.995949G>C , CM000666.1:g.995949G>C	GRCh37
NC_000004.10:g.985949G>C	NCBI36
NG_008103.1:g.20165G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.972G>C	ENSP00000247933.4:p.Lys324Asn
ENST00000514224.2:c.972G>C MANE Select	ENSP00000425081.2:p.Lys324Asn
ENST00000652070.1:n.1028G>C
ENST00000247933.8:c.972G>C	ENSP00000247933.4:p.Lys324Asn
ENST00000514224.1:c.576G>C	ENSP00000425081.1:p.Lys192Asn
ENST00000514698.5:n.972G>C
NM_000203.4:c.972G>C	NP_000194.2:p.Lys324Asn
NR_110313.1:n.1060G>C
XM_006713882.2:c.576G>C	XP_006713945.1:p.Lys192Asn
XM_011513459.1:c.931G>C	XP_011511761.1:p.Gly311Arg
XM_011513460.1:c.831G>C	XP_011511762.1:p.Lys277Asn
XM_011513461.1:c.765G>C	XP_011511763.1:p.Lys255Asn
XM_011513462.1:c.684G>C	XP_011511764.1:p.Lys228Asn
XM_011513463.1:c.684G>C	XP_011511765.1:p.Lys228Asn
XR_924947.1:n.1041G>C
NM_000203.5:c.972G>C MANE Select	NP_000194.2:p.Lys324Asn
NM_001363576.1:c.576G>C	NP_001350505.1:p.Lys192Asn
XM_011513461.2:c.765G>C	XP_011511763.1:p.Lys255Asn
XM_017008163.1:c.12G>C	XP_016863652.1:p.Lys4Asn