Canonical Allele Identifier: CA355961295

Gene: IDUA

Linked Data

• gnomAD v4: 4-1000891-T-C
• MyVariant Identifiers: chr4:g.994679T>C (hg19) ; chr4:g.1000891T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1000891T>C , CM000666.2:g.1000891T>C	GRCh38
NC_000004.11:g.994679T>C , CM000666.1:g.994679T>C	GRCh37
NC_000004.10:g.984679T>C	NCBI36
NG_008103.1:g.18895T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000247933.9:c.395T>C	ENSP00000247933.4:p.Leu132Pro
ENST00000514224.2:c.395T>C MANE Select	ENSP00000425081.2:p.Leu132Pro
ENST00000652070.1:n.451T>C
ENST00000247933.8:c.395T>C	ENSP00000247933.4:p.Leu132Pro
ENST00000502910.5:c.254T>C	ENSP00000422952.1:p.Leu85Pro
ENST00000504568.5:c.355T>C
ENST00000506561.5:n.404T>C
ENST00000508168.5:n.273T>C
ENST00000509948.5:c.188T>C	ENSP00000424227.1:p.Leu63Pro
ENST00000514192.5:c.212T>C	ENSP00000423685.1:p.Leu71Pro
ENST00000514224.1:c.-2T>C	ENSP00000425081.1:n.-2T>C
ENST00000514698.5:n.295T>C
NM_000203.4:c.395T>C	NP_000194.2:p.Leu132Pro
NR_110313.1:n.483T>C
XM_006713882.2:c.-2T>C	XP_006713945.1:n.-2T>C
XM_011513459.1:c.254T>C	XP_011511761.1:p.Leu85Pro
XM_011513460.1:c.254T>C	XP_011511762.1:p.Leu85Pro
XM_011513461.1:c.188T>C	XP_011511763.1:p.Leu63Pro
XM_011513462.1:c.107T>C	XP_011511764.1:p.Leu36Pro
XM_011513463.1:c.107T>C	XP_011511765.1:p.Leu36Pro
XR_924947.1:n.464T>C
NM_000203.5:c.395T>C MANE Select	NP_000194.2:p.Leu132Pro
NM_001363576.1:c.-2T>C	NP_001350505.1:n.-2T>C
XM_011513461.2:c.188T>C	XP_011511763.1:p.Leu63Pro
XM_017008163.1:c.-1072T>C	XP_016863652.1:n.-1072T>C