Canonical Allele Identifier: CA549264463

Gene: IDUA

Linked Data

• dbSNP Id: rs762411583
• gnomAD v2: 4-995460-G-C
• gnomAD v3: 4-1001672-G-C
• gnomAD v4: 4-1001672-G-C
• MyVariant Identifiers: chr4:g.995460G>C (hg19) ; chr4:g.1001672G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1001672G>C , CM000666.2:g.1001672G>C	GRCh38
NC_000004.11:g.995460G>C , CM000666.1:g.995460G>C	GRCh37
NC_000004.10:g.985460G>C	NCBI36
NG_008103.1:g.19676G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.590-7G>C	ENSP00000247933.4:n.590-7G>C
ENST00000514224.2:c.590-7G>C MANE Select	ENSP00000425081.2:n.590-7G>C
ENST00000652070.1:n.646-7G>C
ENST00000247933.8:c.590-7G>C	ENSP00000247933.4:n.590-7G>C
ENST00000502910.5:c.449-7G>C	ENSP00000422952.1:n.449-7G>C
ENST00000504568.5:c.550-7G>C
ENST00000509948.5:c.383-7G>C	ENSP00000424227.1:n.383-7G>C
ENST00000514192.5:c.407-7G>C	ENSP00000423685.1:n.407-7G>C
ENST00000514224.1:c.194-7G>C	ENSP00000425081.1:n.194-7G>C
ENST00000514698.5:n.490-7G>C
NM_000203.4:c.590-7G>C	NP_000194.2:n.590-7G>C
NR_110313.1:n.678-7G>C
XM_006713882.2:c.194-7G>C	XP_006713945.1:n.194-7G>C
XM_011513459.1:c.449-7G>C	XP_011511761.1:n.449-7G>C
XM_011513460.1:c.449-7G>C	XP_011511762.1:n.449-7G>C
XM_011513461.1:c.383-7G>C	XP_011511763.1:n.383-7G>C
XM_011513462.1:c.302-7G>C	XP_011511764.1:n.302-7G>C
XM_011513463.1:c.302-7G>C	XP_011511765.1:n.302-7G>C
XR_924947.1:n.659-7G>C
NM_000203.5:c.590-7G>C MANE Select	NP_000194.2:n.590-7G>C
NM_001363576.1:c.194-7G>C	NP_001350505.1:n.194-7G>C
XM_011513461.2:c.383-7G>C	XP_011511763.1:n.383-7G>C
XM_017008163.1:c.-378G>C	XP_016863652.1:n.-378G>C