Canonical Allele Identifier: CA438058104

Gene: IDUA

Linked Data

• gnomAD v4: 4-1003377-C-T
• MyVariant Identifiers: chr4:g.997165C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003377C>T , CM000666.2:g.1003377C>T	GRCh38
NC_000004.11:g.997165C>T , CM000666.1:g.997165C>T	GRCh37
NC_000004.10:g.987165C>T	NCBI36
NG_008103.1:g.21381C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1557C>T	ENSP00000247933.4:p.Pro519=
ENST00000514224.2:c.1557C>T MANE Select	ENSP00000425081.2:p.Pro519=
ENST00000652070.1:n.1613C>T
ENST00000247933.8:c.1557C>T	ENSP00000247933.4:p.Pro519=
ENST00000502829.1:n.546C>T
ENST00000514224.1:c.1161C>T	ENSP00000425081.1:p.Pro387=
ENST00000514698.5:n.1664C>T
NM_000203.4:c.1557C>T	NP_000194.2:p.Pro519=
NR_110313.1:n.1645C>T
XM_006713882.2:c.1161C>T	XP_006713945.1:p.Pro387=
XM_011513459.1:c.1623C>T	XP_011511761.1:p.Pro541=
XM_011513460.1:c.1416C>T	XP_011511762.1:p.Pro472=
XM_011513461.1:c.1350C>T	XP_011511763.1:p.Pro450=
XM_011513462.1:c.1269C>T	XP_011511764.1:p.Pro423=
XM_011513463.1:c.1269C>T	XP_011511765.1:p.Pro423=
XR_924947.1:n.1813C>T
NM_000203.5:c.1557C>T MANE Select	NP_000194.2:p.Pro519=
NM_001363576.1:c.1161C>T	NP_001350505.1:p.Pro387=
XM_011513461.2:c.1350C>T	XP_011511763.1:p.Pro450=
XM_017008163.1:c.597C>T	XP_016863652.1:p.Pro199=