Canonical Allele Identifier: CA438057456

Gene: IDUA

Linked Data

• ClinVar Variation Id: 1623134
• ClinVar RCV Id: RCV002108776
• dbSNP Id: rs2153022177
• MyVariant Identifiers: chr4:g.995817G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002029G>C , CM000666.2:g.1002029G>C	GRCh38
NC_000004.11:g.995817G>C , CM000666.1:g.995817G>C	GRCh37
NC_000004.10:g.985817G>C	NCBI36
NG_008103.1:g.20033G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000247933.9:c.840G>C	ENSP00000247933.4:p.Ala280=
ENST00000514224.2:c.840G>C MANE Select	ENSP00000425081.2:p.Ala280=
ENST00000652070.1:n.896G>C
ENST00000247933.8:c.840G>C	ENSP00000247933.4:p.Ala280=
ENST00000514192.5:c.657G>C	ENSP00000423685.1:p.Ala219=
ENST00000514224.1:c.444G>C	ENSP00000425081.1:p.Ala148=
ENST00000514698.5:n.840G>C
NM_000203.4:c.840G>C	NP_000194.2:p.Ala280=
NR_110313.1:n.928G>C
XM_006713882.2:c.444G>C	XP_006713945.1:p.Ala148=
XM_011513459.1:c.799G>C	XP_011511761.1:p.Ala267Pro
XM_011513460.1:c.699G>C	XP_011511762.1:p.Ala233=
XM_011513461.1:c.633G>C	XP_011511763.1:p.Ala211=
XM_011513462.1:c.552G>C	XP_011511764.1:p.Ala184=
XM_011513463.1:c.552G>C	XP_011511765.1:p.Ala184=
XR_924947.1:n.909G>C
NM_000203.5:c.840G>C MANE Select	NP_000194.2:p.Ala280=
NM_001363576.1:c.444G>C	NP_001350505.1:p.Ala148=
XM_011513461.2:c.633G>C	XP_011511763.1:p.Ala211=
XM_017008163.1:c.-121G>C	XP_016863652.1:n.-121G>C