Canonical Allele Identifier: CA355965119

Gene: IDUA

Linked Data

• dbSNP Id: rs765815271
• gnomAD v2: 4-997248-C-T
• gnomAD v4: 4-1003460-C-T
• MyVariant Identifiers: chr4:g.997248C>T (hg19) ; chr4:g.1003460C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003460C>T , CM000666.2:g.1003460C>T	GRCh38
NC_000004.11:g.997248C>T , CM000666.1:g.997248C>T	GRCh37
NC_000004.10:g.987248C>T	NCBI36
NG_008103.1:g.21464C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1640C>T	ENSP00000247933.4:p.Pro547Leu
ENST00000514224.2:c.1640C>T MANE Select	ENSP00000425081.2:p.Pro547Leu
ENST00000652070.1:n.1696C>T
ENST00000247933.8:c.1640C>T	ENSP00000247933.4:p.Pro547Leu
ENST00000514224.1:c.1244C>T	ENSP00000425081.1:p.Pro415Leu
ENST00000514417.1:n.32C>T
ENST00000514698.5:n.1747C>T
NM_000203.4:c.1640C>T	NP_000194.2:p.Pro547Leu
NR_110313.1:n.1728C>T
XM_006713882.2:c.1244C>T	XP_006713945.1:p.Pro415Leu
XM_011513459.1:c.1706C>T	XP_011511761.1:p.Pro569Leu
XM_011513460.1:c.1499C>T	XP_011511762.1:p.Pro500Leu
XM_011513461.1:c.1433C>T	XP_011511763.1:p.Pro478Leu
XM_011513462.1:c.1352C>T	XP_011511764.1:p.Pro451Leu
XM_011513463.1:c.1352C>T	XP_011511765.1:p.Pro451Leu
XR_924947.1:n.1896C>T
NM_000203.5:c.1640C>T MANE Select	NP_000194.2:p.Pro547Leu
NM_001363576.1:c.1244C>T	NP_001350505.1:p.Pro415Leu
XM_011513461.2:c.1433C>T	XP_011511763.1:p.Pro478Leu
XM_017008163.1:c.680C>T	XP_016863652.1:p.Pro227Leu