Canonical Allele Identifier: CA355964919

Gene: IDUA

Linked Data

• dbSNP Id: rs1327789436
• gnomAD v2: 4-997146-C-T
• gnomAD v4: 4-1003358-C-T
• MyVariant Identifiers: chr4:g.997146C>T (hg19) ; chr4:g.1003358C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003358C>T , CM000666.2:g.1003358C>T	GRCh38
NC_000004.11:g.997146C>T , CM000666.1:g.997146C>T	GRCh37
NC_000004.10:g.987146C>T	NCBI36
NG_008103.1:g.21362C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1538C>T	ENSP00000247933.4:p.Ala513Val
ENST00000514224.2:c.1538C>T MANE Select	ENSP00000425081.2:p.Ala513Val
ENST00000652070.1:n.1594C>T
ENST00000247933.8:c.1538C>T	ENSP00000247933.4:p.Ala513Val
ENST00000502829.1:n.527C>T
ENST00000514224.1:c.1142C>T	ENSP00000425081.1:p.Ala381Val
ENST00000514698.5:n.1645C>T
NM_000203.4:c.1538C>T	NP_000194.2:p.Ala513Val
NR_110313.1:n.1626C>T
XM_006713882.2:c.1142C>T	XP_006713945.1:p.Ala381Val
XM_011513459.1:c.1604C>T	XP_011511761.1:p.Ala535Val
XM_011513460.1:c.1397C>T	XP_011511762.1:p.Ala466Val
XM_011513461.1:c.1331C>T	XP_011511763.1:p.Ala444Val
XM_011513462.1:c.1250C>T	XP_011511764.1:p.Ala417Val
XM_011513463.1:c.1250C>T	XP_011511765.1:p.Ala417Val
XR_924947.1:n.1794C>T
NM_000203.5:c.1538C>T MANE Select	NP_000194.2:p.Ala513Val
NM_001363576.1:c.1142C>T	NP_001350505.1:p.Ala381Val
XM_011513461.2:c.1331C>T	XP_011511763.1:p.Ala444Val
XM_017008163.1:c.578C>T	XP_016863652.1:p.Ala193Val