Canonical Allele Identifier: CA438057919

Gene: IDUA

Linked Data

• ClinVar Variation Id: 3017614
• ClinVar RCV Id: RCV003874213
• dbSNP Id: rs773184536
• MyVariant Identifiers: chr4:g.997195G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003407G>C , CM000666.2:g.1003407G>C	GRCh38
NC_000004.11:g.997195G>C , CM000666.1:g.997195G>C	GRCh37
NC_000004.10:g.987195G>C	NCBI36
NG_008103.1:g.21411G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1587G>C	ENSP00000247933.4:p.Ala529=
ENST00000514224.2:c.1587G>C MANE Select	ENSP00000425081.2:p.Ala529=
ENST00000652070.1:n.1643G>C
ENST00000247933.8:c.1587G>C	ENSP00000247933.4:p.Ala529=
ENST00000514224.1:c.1191G>C	ENSP00000425081.1:p.Ala397=
ENST00000514698.5:n.1694G>C
NM_000203.4:c.1587G>C	NP_000194.2:p.Ala529=
NR_110313.1:n.1675G>C
XM_006713882.2:c.1191G>C	XP_006713945.1:p.Ala397=
XM_011513459.1:c.1653G>C	XP_011511761.1:p.Ala551=
XM_011513460.1:c.1446G>C	XP_011511762.1:p.Ala482=
XM_011513461.1:c.1380G>C	XP_011511763.1:p.Ala460=
XM_011513462.1:c.1299G>C	XP_011511764.1:p.Ala433=
XM_011513463.1:c.1299G>C	XP_011511765.1:p.Ala433=
XR_924947.1:n.1843G>C
NM_000203.5:c.1587G>C MANE Select	NP_000194.2:p.Ala529=
NM_001363576.1:c.1191G>C	NP_001350505.1:p.Ala397=
XM_011513461.2:c.1380G>C	XP_011511763.1:p.Ala460=
XM_017008163.1:c.627G>C	XP_016863652.1:p.Ala209=