Canonical Allele Identifier: CA220513

Gene: IDUA

Linked Data

• ClinVar Variation Id: 92648
• ClinVar RCV Id: RCV000078398 ; RCV001854379
• dbSNP Id: rs373037758
• ExAC: 4:995644 T / C
• gnomAD v2: 4-995644-T-C
• gnomAD v3: 4-1001856-T-C
• gnomAD v4: 4-1001856-T-C
• MyVariant Identifiers: chr4:g.995644T>C (hg19) ; chr4:g.1001856T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1001856T>C , CM000666.2:g.1001856T>C	GRCh38
NC_000004.11:g.995644T>C , CM000666.1:g.995644T>C	GRCh37
NC_000004.10:g.985644T>C	NCBI36
NG_008103.1:g.19860T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.767T>C	ENSP00000247933.4:p.Leu256Pro
ENST00000514224.2:c.767T>C MANE Select	ENSP00000425081.2:p.Leu256Pro
ENST00000652070.1:n.823T>C
ENST00000247933.8:c.767T>C	ENSP00000247933.4:p.Leu256Pro
ENST00000502910.5:c.626T>C	ENSP00000422952.1:p.Leu209Pro
ENST00000514192.5:c.584T>C	ENSP00000423685.1:p.Leu195Pro
ENST00000514224.1:c.371T>C	ENSP00000425081.1:p.Leu124Pro
ENST00000514698.5:n.667T>C
NM_000203.4:c.767T>C	NP_000194.2:p.Leu256Pro
NR_110313.1:n.855T>C
XM_006713882.2:c.371T>C	XP_006713945.1:p.Leu124Pro
XM_011513459.1:c.626T>C	XP_011511761.1:p.Leu209Pro
XM_011513460.1:c.626T>C	XP_011511762.1:p.Leu209Pro
XM_011513461.1:c.560T>C	XP_011511763.1:p.Leu187Pro
XM_011513462.1:c.479T>C	XP_011511764.1:p.Leu160Pro
XM_011513463.1:c.479T>C	XP_011511765.1:p.Leu160Pro
XR_924947.1:n.836T>C
NM_000203.5:c.767T>C MANE Select	NP_000194.2:p.Leu256Pro
NM_001363576.1:c.371T>C	NP_001350505.1:p.Leu124Pro
XM_011513461.2:c.560T>C	XP_011511763.1:p.Leu187Pro
XM_017008163.1:c.-194T>C	XP_016863652.1:n.-194T>C