Canonical Allele Identifier: CA549264514

Gene: IDUA

Linked Data

• dbSNP Id: rs1430069285
• gnomAD v2: 4-995971-C-T
• gnomAD v3: 4-1002183-C-T
• gnomAD v4: 4-1002183-C-T
• MyVariant Identifiers: chr4:g.995971C>T (hg19) ; chr4:g.1002183C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002183C>T , CM000666.2:g.1002183C>T	GRCh38
NC_000004.11:g.995971C>T , CM000666.1:g.995971C>T	GRCh37
NC_000004.10:g.985971C>T	NCBI36
NG_008103.1:g.20187C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000247933.9:c.972+22C>T	ENSP00000247933.4:n.972+22C>T
ENST00000514224.2:c.972+22C>T MANE Select	ENSP00000425081.2:n.972+22C>T
ENST00000652070.1:n.1028+22C>T
ENST00000247933.8:c.972+22C>T	ENSP00000247933.4:n.972+22C>T
ENST00000514224.1:c.576+22C>T	ENSP00000425081.1:n.576+22C>T
ENST00000514698.5:n.994C>T
NM_000203.4:c.972+22C>T	NP_000194.2:n.972+22C>T
NR_110313.1:n.1060+22C>T
XM_006713882.2:c.576+22C>T	XP_006713945.1:n.576+22C>T
XM_011513459.1:c.953C>T	XP_011511761.1:p.Ala318Val
XM_011513460.1:c.831+22C>T	XP_011511762.1:n.831+22C>T
XM_011513461.1:c.765+22C>T	XP_011511763.1:n.765+22C>T
XM_011513462.1:c.684+22C>T	XP_011511764.1:n.684+22C>T
XM_011513463.1:c.684+22C>T	XP_011511765.1:n.684+22C>T
XR_924947.1:n.1041+22C>T
NM_000203.5:c.972+22C>T MANE Select	NP_000194.2:n.972+22C>T
NM_001363576.1:c.576+22C>T	NP_001350505.1:n.576+22C>T
XM_011513461.2:c.765+22C>T	XP_011511763.1:n.765+22C>T
XM_017008163.1:c.12+22C>T	XP_016863652.1:n.12+22C>T