Canonical Allele Identifier: CA355965084

Gene: IDUA

Linked Data

• gnomAD v4: 4-1003445-C-T
• MyVariant Identifiers: chr4:g.997233C>T (hg19) ; chr4:g.1003445C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003445C>T , CM000666.2:g.1003445C>T	GRCh38
NC_000004.11:g.997233C>T , CM000666.1:g.997233C>T	GRCh37
NC_000004.10:g.987233C>T	NCBI36
NG_008103.1:g.21449C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1625C>T	ENSP00000247933.4:p.Ala542Val
ENST00000514224.2:c.1625C>T MANE Select	ENSP00000425081.2:p.Ala542Val
ENST00000652070.1:n.1681C>T
ENST00000247933.8:c.1625C>T	ENSP00000247933.4:p.Ala542Val
ENST00000514224.1:c.1229C>T	ENSP00000425081.1:p.Ala410Val
ENST00000514417.1:n.17C>T
ENST00000514698.5:n.1732C>T
NM_000203.4:c.1625C>T	NP_000194.2:p.Ala542Val
NR_110313.1:n.1713C>T
XM_006713882.2:c.1229C>T	XP_006713945.1:p.Ala410Val
XM_011513459.1:c.1691C>T	XP_011511761.1:p.Ala564Val
XM_011513460.1:c.1484C>T	XP_011511762.1:p.Ala495Val
XM_011513461.1:c.1418C>T	XP_011511763.1:p.Ala473Val
XM_011513462.1:c.1337C>T	XP_011511764.1:p.Ala446Val
XM_011513463.1:c.1337C>T	XP_011511765.1:p.Ala446Val
XR_924947.1:n.1881C>T
NM_000203.5:c.1625C>T MANE Select	NP_000194.2:p.Ala542Val
NM_001363576.1:c.1229C>T	NP_001350505.1:p.Ala410Val
XM_011513461.2:c.1418C>T	XP_011511763.1:p.Ala473Val
XM_017008163.1:c.665C>T	XP_016863652.1:p.Ala222Val