Canonical Allele Identifier: CA438058067

Gene: IDUA

Linked Data

• ClinVar Variation Id: 755347
• ClinVar RCV Id: RCV001414503
• dbSNP Id: rs1392263774
• gnomAD v2: 4-997144-C-T
• gnomAD v3: 4-1003356-C-T
• gnomAD v4: 4-1003356-C-T
• MyVariant Identifiers: chr4:g.997144C>T (hg19) ; chr4:g.1003356C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003356C>T , CM000666.2:g.1003356C>T	GRCh38
NC_000004.11:g.997144C>T , CM000666.1:g.997144C>T	GRCh37
NC_000004.10:g.987144C>T	NCBI36
NG_008103.1:g.21360C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1536C>T	ENSP00000247933.4:p.Ala512=
ENST00000514224.2:c.1536C>T MANE Select	ENSP00000425081.2:p.Ala512=
ENST00000652070.1:n.1592C>T
ENST00000247933.8:c.1536C>T	ENSP00000247933.4:p.Ala512=
ENST00000502829.1:n.525C>T
ENST00000514224.1:c.1140C>T	ENSP00000425081.1:p.Ala380=
ENST00000514698.5:n.1643C>T
NM_000203.4:c.1536C>T	NP_000194.2:p.Ala512=
NR_110313.1:n.1624C>T
XM_006713882.2:c.1140C>T	XP_006713945.1:p.Ala380=
XM_011513459.1:c.1602C>T	XP_011511761.1:p.Ala534=
XM_011513460.1:c.1395C>T	XP_011511762.1:p.Ala465=
XM_011513461.1:c.1329C>T	XP_011511763.1:p.Ala443=
XM_011513462.1:c.1248C>T	XP_011511764.1:p.Ala416=
XM_011513463.1:c.1248C>T	XP_011511765.1:p.Ala416=
XR_924947.1:n.1792C>T
NM_000203.5:c.1536C>T MANE Select	NP_000194.2:p.Ala512=
NM_001363576.1:c.1140C>T	NP_001350505.1:p.Ala380=
XM_011513461.2:c.1329C>T	XP_011511763.1:p.Ala443=
XM_017008163.1:c.576C>T	XP_016863652.1:p.Ala192=