Canonical Allele Identifier: CA2802009

Gene: IDUA

Linked Data

• dbSNP Id: rs750602652
• ExAC: 4:995400 A / C
• gnomAD v2: 4-995400-A-C
• MyVariant Identifiers: chr4:g.995400A>C (hg19) ; chr4:g.1001612A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1001612A>C , CM000666.2:g.1001612A>C	GRCh38
NC_000004.11:g.995400A>C , CM000666.1:g.995400A>C	GRCh37
NC_000004.10:g.985400A>C	NCBI36
NG_008103.1:g.19616A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.589+49A>C	ENSP00000247933.4:n.589+49A>C
ENST00000514224.2:c.589+49A>C MANE Select	ENSP00000425081.2:n.589+49A>C
ENST00000652070.1:n.645+49A>C
ENST00000247933.8:c.589+49A>C	ENSP00000247933.4:n.589+49A>C
ENST00000502910.5:c.448+49A>C	ENSP00000422952.1:n.448+49A>C
ENST00000504568.5:c.549+49A>C
ENST00000509948.5:c.382+49A>C	ENSP00000424227.1:n.382+49A>C
ENST00000514192.5:c.406+49A>C	ENSP00000423685.1:n.406+49A>C
ENST00000514224.1:c.193+49A>C	ENSP00000425081.1:n.193+49A>C
ENST00000514698.5:n.489+49A>C
NM_000203.4:c.589+49A>C	NP_000194.2:n.589+49A>C
NR_110313.1:n.677+49A>C
XM_006713882.2:c.193+49A>C	XP_006713945.1:n.193+49A>C
XM_011513459.1:c.448+49A>C	XP_011511761.1:n.448+49A>C
XM_011513460.1:c.448+49A>C	XP_011511762.1:n.448+49A>C
XM_011513461.1:c.382+49A>C	XP_011511763.1:n.382+49A>C
XM_011513462.1:c.301+49A>C	XP_011511764.1:n.301+49A>C
XM_011513463.1:c.301+49A>C	XP_011511765.1:n.301+49A>C
XR_924947.1:n.658+49A>C
NM_000203.5:c.589+49A>C MANE Select	NP_000194.2:n.589+49A>C
NM_001363576.1:c.193+49A>C	NP_001350505.1:n.193+49A>C
XM_011513461.2:c.382+49A>C	XP_011511763.1:n.382+49A>C
XM_017008163.1:c.-399-39A>C	XP_016863652.1:n.-399-39A>C