Canonical Allele Identifier: CA438058024

Gene: IDUA

Linked Data

• gnomAD v4: 4-1003569-G-T
• MyVariant Identifiers: chr4:g.997357G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003569G>T , CM000666.2:g.1003569G>T	GRCh38
NC_000004.11:g.997357G>T , CM000666.1:g.997357G>T	GRCh37
NC_000004.10:g.987357G>T	NCBI36
NG_008103.1:g.21573G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1671G>T	ENSP00000247933.4:p.Leu557=
ENST00000514224.2:c.1671G>T MANE Select	ENSP00000425081.2:p.Leu557=
ENST00000652070.1:n.1727G>T
ENST00000247933.8:c.1671G>T	ENSP00000247933.4:p.Leu557=
ENST00000514224.1:c.1275G>T	ENSP00000425081.1:p.Leu425=
ENST00000514417.1:n.63G>T
ENST00000514698.5:n.1778G>T
NM_000203.4:c.1671G>T	NP_000194.2:p.Leu557=
NR_110313.1:n.1759G>T
XM_006713882.2:c.1275G>T	XP_006713945.1:p.Leu425=
XM_011513459.1:c.1737G>T	XP_011511761.1:p.Leu579=
XM_011513460.1:c.1530G>T	XP_011511762.1:p.Leu510=
XM_011513461.1:c.1464G>T	XP_011511763.1:p.Leu488=
XM_011513462.1:c.1383G>T	XP_011511764.1:p.Leu461=
XM_011513463.1:c.1383G>T	XP_011511765.1:p.Leu461=
XR_924947.1:n.1927G>T
NM_000203.5:c.1671G>T MANE Select	NP_000194.2:p.Leu557=
NM_001363576.1:c.1275G>T	NP_001350505.1:p.Leu425=
XM_011513461.2:c.1464G>T	XP_011511763.1:p.Leu488=
XM_017008163.1:c.711G>T	XP_016863652.1:p.Leu237=