Canonical Allele Identifier: CA549264522

Gene: IDUA

Linked Data

• dbSNP Id: rs1330978548
• gnomAD v2: 4-996008-G-C
• gnomAD v4: 4-1002220-G-C
• MyVariant Identifiers: chr4:g.996008G>C (hg19) ; chr4:g.1002220G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002220G>C , CM000666.2:g.1002220G>C	GRCh38
NC_000004.11:g.996008G>C , CM000666.1:g.996008G>C	GRCh37
NC_000004.10:g.986008G>C	NCBI36
NG_008103.1:g.20224G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.973-49G>C	ENSP00000247933.4:n.973-49G>C
ENST00000514224.2:c.973-49G>C MANE Select	ENSP00000425081.2:n.973-49G>C
ENST00000652070.1:n.1029-49G>C
ENST00000247933.8:c.973-49G>C	ENSP00000247933.4:n.973-49G>C
ENST00000514224.1:c.577-49G>C	ENSP00000425081.1:n.577-49G>C
ENST00000514698.5:n.1031G>C
NM_000203.4:c.973-49G>C	NP_000194.2:n.973-49G>C
NR_110313.1:n.1061-49G>C
XM_006713882.2:c.577-49G>C	XP_006713945.1:n.577-49G>C
XM_011513459.1:c.990G>C	XP_011511761.1:p.Arg330Ser
XM_011513460.1:c.832-49G>C	XP_011511762.1:n.832-49G>C
XM_011513461.1:c.766-49G>C	XP_011511763.1:n.766-49G>C
XM_011513462.1:c.685-49G>C	XP_011511764.1:n.685-49G>C
XM_011513463.1:c.685-49G>C	XP_011511765.1:n.685-49G>C
XR_924947.1:n.1042-49G>C
NM_000203.5:c.973-49G>C MANE Select	NP_000194.2:n.973-49G>C
NM_001363576.1:c.577-49G>C	NP_001350505.1:n.577-49G>C
XM_011513461.2:c.766-49G>C	XP_011511763.1:n.766-49G>C
XM_017008163.1:c.13-49G>C	XP_016863652.1:n.13-49G>C