Canonical Allele Identifier: CA355961769

Gene: IDUA

Linked Data

• gnomAD v4: 4-1001533-G-C
• MyVariant Identifiers: chr4:g.995321G>C (hg19) ; chr4:g.1001533G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1001533G>C , CM000666.2:g.1001533G>C	GRCh38
NC_000004.11:g.995321G>C , CM000666.1:g.995321G>C	GRCh37
NC_000004.10:g.985321G>C	NCBI36
NG_008103.1:g.19537G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.559G>C	ENSP00000247933.4:p.Asp187His
ENST00000514224.2:c.559G>C MANE Select	ENSP00000425081.2:p.Asp187His
ENST00000652070.1:n.615G>C
ENST00000247933.8:c.559G>C	ENSP00000247933.4:p.Asp187His
ENST00000502910.5:c.418G>C	ENSP00000422952.1:p.Asp140His
ENST00000504568.5:c.519G>C
ENST00000509948.5:c.352G>C	ENSP00000424227.1:p.Asp118His
ENST00000514192.5:c.376G>C	ENSP00000423685.1:p.Asp126His
ENST00000514224.1:c.163G>C	ENSP00000425081.1:p.Asp55His
ENST00000514698.5:n.459G>C
NM_000203.4:c.559G>C	NP_000194.2:p.Asp187His
NR_110313.1:n.647G>C
XM_006713882.2:c.163G>C	XP_006713945.1:p.Asp55His
XM_011513459.1:c.418G>C	XP_011511761.1:p.Asp140His
XM_011513460.1:c.418G>C	XP_011511762.1:p.Asp140His
XM_011513461.1:c.352G>C	XP_011511763.1:p.Asp118His
XM_011513462.1:c.271G>C	XP_011511764.1:p.Asp91His
XM_011513463.1:c.271G>C	XP_011511765.1:p.Asp91His
XR_924947.1:n.628G>C
NM_000203.5:c.559G>C MANE Select	NP_000194.2:p.Asp187His
NM_001363576.1:c.163G>C	NP_001350505.1:p.Asp55His
XM_011513461.2:c.352G>C	XP_011511763.1:p.Asp118His
XM_017008163.1:c.-430G>C	XP_016863652.1:n.-430G>C