Canonical Allele Identifier: CA355962348

Gene: IDUA

Linked Data

• gnomAD v4: 4-1002012-C-T
• MyVariant Identifiers: chr4:g.995800C>T (hg19) ; chr4:g.1002012C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002012C>T , CM000666.2:g.1002012C>T	GRCh38
NC_000004.11:g.995800C>T , CM000666.1:g.995800C>T	GRCh37
NC_000004.10:g.985800C>T	NCBI36
NG_008103.1:g.20016C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.823C>T	ENSP00000247933.4:p.Gln275Ter
ENST00000514224.2:c.823C>T MANE Select	ENSP00000425081.2:p.Gln275Ter
ENST00000652070.1:n.879C>T
ENST00000247933.8:c.823C>T	ENSP00000247933.4:p.Gln275Ter
ENST00000514192.5:c.640C>T	ENSP00000423685.1:p.Gln214Ter
ENST00000514224.1:c.427C>T	ENSP00000425081.1:p.Gln143Ter
ENST00000514698.5:n.823C>T
NM_000203.4:c.823C>T	NP_000194.2:p.Gln275Ter
NR_110313.1:n.911C>T
XM_006713882.2:c.427C>T	XP_006713945.1:p.Gln143Ter
XM_011513459.1:c.782C>T	XP_011511761.1:p.Ala261Val
XM_011513460.1:c.682C>T	XP_011511762.1:p.Gln228Ter
XM_011513461.1:c.616C>T	XP_011511763.1:p.Gln206Ter
XM_011513462.1:c.535C>T	XP_011511764.1:p.Gln179Ter
XM_011513463.1:c.535C>T	XP_011511765.1:p.Gln179Ter
XR_924947.1:n.892C>T
NM_000203.5:c.823C>T MANE Select	NP_000194.2:p.Gln275Ter
NM_001363576.1:c.427C>T	NP_001350505.1:p.Gln143Ter
XM_011513461.2:c.616C>T	XP_011511763.1:p.Gln206Ter
XM_017008163.1:c.-138C>T	XP_016863652.1:n.-138C>T