Canonical Allele Identifier: CA355963545

Gene: IDUA

Linked Data

• dbSNP Id: rs1232991942
• gnomAD v2: 4-996532-T-A
• gnomAD v4: 4-1002744-T-A
• MyVariant Identifiers: chr4:g.996532T>A (hg19) ; chr4:g.1002744T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002744T>A , CM000666.2:g.1002744T>A	GRCh38
NC_000004.11:g.996532T>A , CM000666.1:g.996532T>A	GRCh37
NC_000004.10:g.986532T>A	NCBI36
NG_008103.1:g.20748T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1202T>A	ENSP00000247933.4:p.Leu401His
ENST00000514224.2:c.1202T>A MANE Select	ENSP00000425081.2:p.Leu401His
ENST00000652070.1:n.1258T>A
ENST00000247933.8:c.1202T>A	ENSP00000247933.4:p.Leu401His
ENST00000502829.1:n.4T>A
ENST00000514224.1:c.806T>A	ENSP00000425081.1:p.Leu269His
ENST00000514698.5:n.1309T>A
NM_000203.4:c.1202T>A	NP_000194.2:p.Leu401His
NR_110313.1:n.1290T>A
XM_006713882.2:c.806T>A	XP_006713945.1:p.Leu269His
XM_011513459.1:c.1268T>A	XP_011511761.1:p.Leu423His
XM_011513460.1:c.1061T>A	XP_011511762.1:p.Leu354His
XM_011513461.1:c.995T>A	XP_011511763.1:p.Leu332His
XM_011513462.1:c.914T>A	XP_011511764.1:p.Leu305His
XM_011513463.1:c.914T>A	XP_011511765.1:p.Leu305His
XR_924947.1:n.1271T>A
NM_000203.5:c.1202T>A MANE Select	NP_000194.2:p.Leu401His
NM_001363576.1:c.806T>A	NP_001350505.1:p.Leu269His
XM_011513461.2:c.995T>A	XP_011511763.1:p.Leu332His
XM_017008163.1:c.242T>A	XP_016863652.1:p.Leu81His