Canonical Allele Identifier: CA355962436
Gene: IDUA HGNC NCBI

Linked Data

dbSNP Id: rs1238096554
gnomAD v2: 4-995840-C-T
gnomAD v3: 4-1002052-C-T
gnomAD v4: 4-1002052-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.1002052C>T , CM000666.2:g.1002052C>T GRCh38
NC_000004.11:g.995840C>T , CM000666.1:g.995840C>T GRCh37
NC_000004.10:g.985840C>T NCBI36
NG_008103.1:g.20056C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000247933.9:c.863C>T ENSP00000247933.4:p.Pro288Leu
ENST00000514224.2:c.863C>T MANE Select ENSP00000425081.2:p.Pro288Leu
ENST00000652070.1:n.919C>T
ENST00000247933.8:c.863C>T ENSP00000247933.4:p.Pro288Leu
ENST00000514192.5:c.680C>T ENSP00000423685.1:p.Pro227Leu
ENST00000514224.1:c.467C>T ENSP00000425081.1:p.Pro156Leu
ENST00000514698.5:n.863C>T
NM_000203.4:c.863C>T NP_000194.2:p.Pro288Leu
NR_110313.1:n.951C>T
XM_006713882.2:c.467C>T XP_006713945.1:p.Pro156Leu
XM_011513459.1:c.822C>T XP_011511761.1:p.Pro274=
XM_011513460.1:c.722C>T XP_011511762.1:p.Pro241Leu
XM_011513461.1:c.656C>T XP_011511763.1:p.Pro219Leu
XM_011513462.1:c.575C>T XP_011511764.1:p.Pro192Leu
XM_011513463.1:c.575C>T XP_011511765.1:p.Pro192Leu
XR_924947.1:n.932C>T
NM_000203.5:c.863C>T MANE Select NP_000194.2:p.Pro288Leu
NM_001363576.1:c.467C>T NP_001350505.1:p.Pro156Leu
XM_011513461.2:c.656C>T XP_011511763.1:p.Pro219Leu
XM_017008163.1:c.-98C>T XP_016863652.1:n.-98C>T