Canonical Allele Identifier: CA2739858858

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1001930T>C , CM000666.2:g.1001930T>C	GRCh38
NC_000004.11:g.995718T>C , CM000666.1:g.995718T>C	GRCh37
NC_000004.10:g.985718T>C	NCBI36
NG_008103.1:g.19934T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000247933.9:c.792+49T>C	ENSP00000247933.4:n.792+49T>C
ENST00000514224.2:c.792+49T>C MANE Select	ENSP00000425081.2:n.792+49T>C
ENST00000652070.1:n.848+49T>C
ENST00000247933.8:c.792+49T>C	ENSP00000247933.4:n.792+49T>C
ENST00000502910.5:c.651+49T>C	ENSP00000422952.1:n.651+49T>C
ENST00000514192.5:c.609+49T>C	ENSP00000423685.1:n.609+49T>C
ENST00000514224.1:c.396+49T>C	ENSP00000425081.1:n.396+49T>C
ENST00000514698.5:n.741T>C
NM_000203.4:c.792+49T>C	NP_000194.2:n.792+49T>C
NR_110313.1:n.880+49T>C
XM_006713882.2:c.396+49T>C	XP_006713945.1:n.396+49T>C
XM_011513459.1:c.700T>C	XP_011511761.1:p.Cys234Arg
XM_011513460.1:c.651+49T>C	XP_011511762.1:n.651+49T>C
XM_011513461.1:c.585+49T>C	XP_011511763.1:n.585+49T>C
XM_011513462.1:c.504+49T>C	XP_011511764.1:n.504+49T>C
XM_011513463.1:c.504+49T>C	XP_011511765.1:n.504+49T>C
XR_924947.1:n.861+49T>C
NM_000203.5:c.792+49T>C MANE Select	NP_000194.2:n.792+49T>C
NM_001363576.1:c.396+49T>C	NP_001350505.1:n.396+49T>C
XM_011513461.2:c.585+49T>C	XP_011511763.1:n.585+49T>C
XM_017008163.1:c.-169+49T>C	XP_016863652.1:n.-169+49T>C