Canonical Allele Identifier: CA355965013

Gene: IDUA

Linked Data

• dbSNP Id: rs1173299085
• gnomAD v4: 4-1003406-C-T
• MyVariant Identifiers: chr4:g.997194C>T (hg19) ; chr4:g.1003406C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003406C>T , CM000666.2:g.1003406C>T	GRCh38
NC_000004.11:g.997194C>T , CM000666.1:g.997194C>T	GRCh37
NC_000004.10:g.987194C>T	NCBI36
NG_008103.1:g.21410C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1586C>T	ENSP00000247933.4:p.Ala529Val
ENST00000514224.2:c.1586C>T MANE Select	ENSP00000425081.2:p.Ala529Val
ENST00000652070.1:n.1642C>T
ENST00000247933.8:c.1586C>T	ENSP00000247933.4:p.Ala529Val
ENST00000514224.1:c.1190C>T	ENSP00000425081.1:p.Ala397Val
ENST00000514698.5:n.1693C>T
NM_000203.4:c.1586C>T	NP_000194.2:p.Ala529Val
NR_110313.1:n.1674C>T
XM_006713882.2:c.1190C>T	XP_006713945.1:p.Ala397Val
XM_011513459.1:c.1652C>T	XP_011511761.1:p.Ala551Val
XM_011513460.1:c.1445C>T	XP_011511762.1:p.Ala482Val
XM_011513461.1:c.1379C>T	XP_011511763.1:p.Ala460Val
XM_011513462.1:c.1298C>T	XP_011511764.1:p.Ala433Val
XM_011513463.1:c.1298C>T	XP_011511765.1:p.Ala433Val
XR_924947.1:n.1842C>T
NM_000203.5:c.1586C>T MANE Select	NP_000194.2:p.Ala529Val
NM_001363576.1:c.1190C>T	NP_001350505.1:p.Ala397Val
XM_011513461.2:c.1379C>T	XP_011511763.1:p.Ala460Val
XM_017008163.1:c.626C>T	XP_016863652.1:p.Ala209Val