Canonical Allele Identifier: CA355965083

Gene: IDUA

Linked Data

• gnomAD v4: 4-1003444-G-T
• MyVariant Identifiers: chr4:g.997232G>T (hg19) ; chr4:g.1003444G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003444G>T , CM000666.2:g.1003444G>T	GRCh38
NC_000004.11:g.997232G>T , CM000666.1:g.997232G>T	GRCh37
NC_000004.10:g.987232G>T	NCBI36
NG_008103.1:g.21448G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1624G>T	ENSP00000247933.4:p.Ala542Ser
ENST00000514224.2:c.1624G>T MANE Select	ENSP00000425081.2:p.Ala542Ser
ENST00000652070.1:n.1680G>T
ENST00000247933.8:c.1624G>T	ENSP00000247933.4:p.Ala542Ser
ENST00000514224.1:c.1228G>T	ENSP00000425081.1:p.Ala410Ser
ENST00000514417.1:n.16G>T
ENST00000514698.5:n.1731G>T
NM_000203.4:c.1624G>T	NP_000194.2:p.Ala542Ser
NR_110313.1:n.1712G>T
XM_006713882.2:c.1228G>T	XP_006713945.1:p.Ala410Ser
XM_011513459.1:c.1690G>T	XP_011511761.1:p.Ala564Ser
XM_011513460.1:c.1483G>T	XP_011511762.1:p.Ala495Ser
XM_011513461.1:c.1417G>T	XP_011511763.1:p.Ala473Ser
XM_011513462.1:c.1336G>T	XP_011511764.1:p.Ala446Ser
XM_011513463.1:c.1336G>T	XP_011511765.1:p.Ala446Ser
XR_924947.1:n.1880G>T
NM_000203.5:c.1624G>T MANE Select	NP_000194.2:p.Ala542Ser
NM_001363576.1:c.1228G>T	NP_001350505.1:p.Ala410Ser
XM_011513461.2:c.1417G>T	XP_011511763.1:p.Ala473Ser
XM_017008163.1:c.664G>T	XP_016863652.1:p.Ala222Ser