Canonical Allele Identifier: CA355962429

Gene: IDUA

Linked Data

• MyVariant Identifiers: chr4:g.995837T>C (hg19) ; chr4:g.1002049T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002049T>C , CM000666.2:g.1002049T>C	GRCh38
NC_000004.11:g.995837T>C , CM000666.1:g.995837T>C	GRCh37
NC_000004.10:g.985837T>C	NCBI36
NG_008103.1:g.20053T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.860T>C	ENSP00000247933.4:p.Phe287Ser
ENST00000514224.2:c.860T>C MANE Select	ENSP00000425081.2:p.Phe287Ser
ENST00000652070.1:n.916T>C
ENST00000247933.8:c.860T>C	ENSP00000247933.4:p.Phe287Ser
ENST00000514192.5:c.677T>C	ENSP00000423685.1:p.Phe226Ser
ENST00000514224.1:c.464T>C	ENSP00000425081.1:p.Phe155Ser
ENST00000514698.5:n.860T>C
NM_000203.4:c.860T>C	NP_000194.2:p.Phe287Ser
NR_110313.1:n.948T>C
XM_006713882.2:c.464T>C	XP_006713945.1:p.Phe155Ser
XM_011513459.1:c.819T>C	XP_011511761.1:p.Leu273=
XM_011513460.1:c.719T>C	XP_011511762.1:p.Phe240Ser
XM_011513461.1:c.653T>C	XP_011511763.1:p.Phe218Ser
XM_011513462.1:c.572T>C	XP_011511764.1:p.Phe191Ser
XM_011513463.1:c.572T>C	XP_011511765.1:p.Phe191Ser
XR_924947.1:n.929T>C
NM_000203.5:c.860T>C MANE Select	NP_000194.2:p.Phe287Ser
NM_001363576.1:c.464T>C	NP_001350505.1:p.Phe155Ser
XM_011513461.2:c.653T>C	XP_011511763.1:p.Phe218Ser
XM_017008163.1:c.-101T>C	XP_016863652.1:n.-101T>C