Canonical Allele Identifier: CA549264518

Gene: IDUA

Linked Data

• dbSNP Id: rs1376931846
• gnomAD v2: 4-995980-C-T
• gnomAD v4: 4-1002192-C-T
• MyVariant Identifiers: chr4:g.995980C>T (hg19) ; chr4:g.1002192C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002192C>T , CM000666.2:g.1002192C>T	GRCh38
NC_000004.11:g.995980C>T , CM000666.1:g.995980C>T	GRCh37
NC_000004.10:g.985980C>T	NCBI36
NG_008103.1:g.20196C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.972+31C>T	ENSP00000247933.4:n.972+31C>T
ENST00000514224.2:c.972+31C>T MANE Select	ENSP00000425081.2:n.972+31C>T
ENST00000652070.1:n.1028+31C>T
ENST00000247933.8:c.972+31C>T	ENSP00000247933.4:n.972+31C>T
ENST00000514224.1:c.576+31C>T	ENSP00000425081.1:n.576+31C>T
ENST00000514698.5:n.1003C>T
NM_000203.4:c.972+31C>T	NP_000194.2:n.972+31C>T
NR_110313.1:n.1060+31C>T
XM_006713882.2:c.576+31C>T	XP_006713945.1:n.576+31C>T
XM_011513459.1:c.962C>T	XP_011511761.1:p.Pro321Leu
XM_011513460.1:c.831+31C>T	XP_011511762.1:n.831+31C>T
XM_011513461.1:c.765+31C>T	XP_011511763.1:n.765+31C>T
XM_011513462.1:c.684+31C>T	XP_011511764.1:n.684+31C>T
XM_011513463.1:c.684+31C>T	XP_011511765.1:n.684+31C>T
XR_924947.1:n.1041+31C>T
NM_000203.5:c.972+31C>T MANE Select	NP_000194.2:n.972+31C>T
NM_001363576.1:c.576+31C>T	NP_001350505.1:n.576+31C>T
XM_011513461.2:c.765+31C>T	XP_011511763.1:n.765+31C>T
XM_017008163.1:c.12+31C>T	XP_016863652.1:n.12+31C>T