Canonical Allele Identifier: CA2578014231

Gene: IDUA

Linked Data

• gnomAD v4: 4-1002676-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002676T>C , CM000666.2:g.1002676T>C	GRCh38
NC_000004.11:g.996464T>C , CM000666.1:g.996464T>C	GRCh37
NC_000004.10:g.986464T>C	NCBI36
NG_008103.1:g.20680T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1190-56T>C	ENSP00000247933.4:n.1190-56T>C
ENST00000514224.2:c.1190-56T>C MANE Select	ENSP00000425081.2:n.1190-56T>C
ENST00000652070.1:n.1246-56T>C
ENST00000247933.8:c.1190-56T>C	ENSP00000247933.4:n.1190-56T>C
ENST00000514224.1:c.794-56T>C	ENSP00000425081.1:n.794-56T>C
ENST00000514698.5:n.1297-56T>C
NM_000203.4:c.1190-56T>C	NP_000194.2:n.1190-56T>C
NR_110313.1:n.1278-56T>C
XM_006713882.2:c.794-56T>C	XP_006713945.1:n.794-56T>C
XM_011513459.1:c.1256-56T>C	XP_011511761.1:n.1256-56T>C
XM_011513460.1:c.1049-56T>C	XP_011511762.1:n.1049-56T>C
XM_011513461.1:c.983-56T>C	XP_011511763.1:n.983-56T>C
XM_011513462.1:c.902-56T>C	XP_011511764.1:n.902-56T>C
XM_011513463.1:c.902-56T>C	XP_011511765.1:n.902-56T>C
XR_924947.1:n.1259-56T>C
NM_000203.5:c.1190-56T>C MANE Select	NP_000194.2:n.1190-56T>C
NM_001363576.1:c.794-56T>C	NP_001350505.1:n.794-56T>C
XM_011513461.2:c.983-56T>C	XP_011511763.1:n.983-56T>C
XM_017008163.1:c.230-56T>C	XP_016863652.1:n.230-56T>C