Canonical Allele Identifier: CA91171120

Gene: IDUA

Linked Data

• dbSNP Id: rs1027324399
• gnomAD v4: 4-1003570-C-G
• MyVariant Identifiers: chr4:g.997358C>G (hg19) ; chr4:g.1003570C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003570C>G , CM000666.2:g.1003570C>G	GRCh38
NC_000004.11:g.997358C>G , CM000666.1:g.997358C>G	GRCh37
NC_000004.10:g.987358C>G	NCBI36
NG_008103.1:g.21574C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1672C>G	ENSP00000247933.4:p.Pro558Ala
ENST00000514224.2:c.1672C>G MANE Select	ENSP00000425081.2:p.Pro558Ala
ENST00000652070.1:n.1728C>G
ENST00000247933.8:c.1672C>G	ENSP00000247933.4:p.Pro558Ala
ENST00000514224.1:c.1276C>G	ENSP00000425081.1:p.Pro426Ala
ENST00000514417.1:n.64C>G
ENST00000514698.5:n.1779C>G
NM_000203.4:c.1672C>G	NP_000194.2:p.Pro558Ala
NR_110313.1:n.1760C>G
XM_006713882.2:c.1276C>G	XP_006713945.1:p.Pro426Ala
XM_011513459.1:c.1738C>G	XP_011511761.1:p.Pro580Ala
XM_011513460.1:c.1531C>G	XP_011511762.1:p.Pro511Ala
XM_011513461.1:c.1465C>G	XP_011511763.1:p.Pro489Ala
XM_011513462.1:c.1384C>G	XP_011511764.1:p.Pro462Ala
XM_011513463.1:c.1384C>G	XP_011511765.1:p.Pro462Ala
XR_924947.1:n.1928C>G
NM_000203.5:c.1672C>G MANE Select	NP_000194.2:p.Pro558Ala
NM_001363576.1:c.1276C>G	NP_001350505.1:p.Pro426Ala
XM_011513461.2:c.1465C>G	XP_011511763.1:p.Pro489Ala
XM_017008163.1:c.712C>G	XP_016863652.1:p.Pro238Ala