Canonical Allele Identifier: CA355962990

Gene: IDUA

Linked Data

• ClinVar Variation Id: 990983
• ClinVar RCV Id: RCV001279107 ; RCV003132373
• dbSNP Id: rs1222686614
• MyVariant Identifiers: chr4:g.996079T>C (hg19) ; chr4:g.1002291T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002291T>C , CM000666.2:g.1002291T>C	GRCh38
NC_000004.11:g.996079T>C , CM000666.1:g.996079T>C	GRCh37
NC_000004.10:g.986079T>C	NCBI36
NG_008103.1:g.20295T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000247933.9:c.995T>C	ENSP00000247933.4:p.Leu332Pro
ENST00000514224.2:c.995T>C MANE Select	ENSP00000425081.2:p.Leu332Pro
ENST00000652070.1:n.1051T>C
ENST00000247933.8:c.995T>C	ENSP00000247933.4:p.Leu332Pro
ENST00000514224.1:c.599T>C	ENSP00000425081.1:p.Leu200Pro
ENST00000514698.5:n.1102T>C
NM_000203.4:c.995T>C	NP_000194.2:p.Leu332Pro
NR_110313.1:n.1083T>C
XM_006713882.2:c.599T>C	XP_006713945.1:p.Leu200Pro
XM_011513459.1:c.1061T>C	XP_011511761.1:p.Leu354Pro
XM_011513460.1:c.854T>C	XP_011511762.1:p.Leu285Pro
XM_011513461.1:c.788T>C	XP_011511763.1:p.Leu263Pro
XM_011513462.1:c.707T>C	XP_011511764.1:p.Leu236Pro
XM_011513463.1:c.707T>C	XP_011511765.1:p.Leu236Pro
XR_924947.1:n.1064T>C
NM_000203.5:c.995T>C MANE Select	NP_000194.2:p.Leu332Pro
NM_001363576.1:c.599T>C	NP_001350505.1:p.Leu200Pro
XM_011513461.2:c.788T>C	XP_011511763.1:p.Leu263Pro
XM_017008163.1:c.35T>C	XP_016863652.1:p.Leu12Pro