Canonical Allele Identifier: CA355962331

Gene: IDUA

Linked Data

• MyVariant Identifiers: chr4:g.995792T>A (hg19) ; chr4:g.1002004T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002004T>A , CM000666.2:g.1002004T>A	GRCh38
NC_000004.11:g.995792T>A , CM000666.1:g.995792T>A	GRCh37
NC_000004.10:g.985792T>A	NCBI36
NG_008103.1:g.20008T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.815T>A	ENSP00000247933.4:p.Ile272Asn
ENST00000514224.2:c.815T>A MANE Select	ENSP00000425081.2:p.Ile272Asn
ENST00000652070.1:n.871T>A
ENST00000247933.8:c.815T>A	ENSP00000247933.4:p.Ile272Asn
ENST00000514192.5:c.632T>A	ENSP00000423685.1:p.Ile211Asn
ENST00000514224.1:c.419T>A	ENSP00000425081.1:p.Ile140Asn
ENST00000514698.5:n.815T>A
NM_000203.4:c.815T>A	NP_000194.2:p.Ile272Asn
NR_110313.1:n.903T>A
XM_006713882.2:c.419T>A	XP_006713945.1:p.Ile140Asn
XM_011513459.1:c.774T>A	XP_011511761.1:p.His258Gln
XM_011513460.1:c.674T>A	XP_011511762.1:p.Ile225Asn
XM_011513461.1:c.608T>A	XP_011511763.1:p.Ile203Asn
XM_011513462.1:c.527T>A	XP_011511764.1:p.Ile176Asn
XM_011513463.1:c.527T>A	XP_011511765.1:p.Ile176Asn
XR_924947.1:n.884T>A
NM_000203.5:c.815T>A MANE Select	NP_000194.2:p.Ile272Asn
NM_001363576.1:c.419T>A	NP_001350505.1:p.Ile140Asn
XM_011513461.2:c.608T>A	XP_011511763.1:p.Ile203Asn
XM_017008163.1:c.-146T>A	XP_016863652.1:n.-146T>A