Canonical Allele Identifier: CA355962449

Gene: IDUA

Linked Data

• MyVariant Identifiers: chr4:g.995846T>C (hg19) ; chr4:g.1002058T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002058T>C , CM000666.2:g.1002058T>C	GRCh38
NC_000004.11:g.995846T>C , CM000666.1:g.995846T>C	GRCh37
NC_000004.10:g.985846T>C	NCBI36
NG_008103.1:g.20062T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.869T>C	ENSP00000247933.4:p.Phe290Ser
ENST00000514224.2:c.869T>C MANE Select	ENSP00000425081.2:p.Phe290Ser
ENST00000652070.1:n.925T>C
ENST00000247933.8:c.869T>C	ENSP00000247933.4:p.Phe290Ser
ENST00000514192.5:c.686T>C	ENSP00000423685.1:p.Phe229Ser
ENST00000514224.1:c.473T>C	ENSP00000425081.1:p.Phe158Ser
ENST00000514698.5:n.869T>C
NM_000203.4:c.869T>C	NP_000194.2:p.Phe290Ser
NR_110313.1:n.957T>C
XM_006713882.2:c.473T>C	XP_006713945.1:p.Phe158Ser
XM_011513459.1:c.828T>C	XP_011511761.1:p.Val276=
XM_011513460.1:c.728T>C	XP_011511762.1:p.Phe243Ser
XM_011513461.1:c.662T>C	XP_011511763.1:p.Phe221Ser
XM_011513462.1:c.581T>C	XP_011511764.1:p.Phe194Ser
XM_011513463.1:c.581T>C	XP_011511765.1:p.Phe194Ser
XR_924947.1:n.938T>C
NM_000203.5:c.869T>C MANE Select	NP_000194.2:p.Phe290Ser
NM_001363576.1:c.473T>C	NP_001350505.1:p.Phe158Ser
XM_011513461.2:c.662T>C	XP_011511763.1:p.Phe221Ser
XM_017008163.1:c.-92T>C	XP_016863652.1:n.-92T>C