Canonical Allele Identifier: CA2801993

Gene: IDUA

Linked Data

• dbSNP Id: rs780132439
• ExAC: 4:995323 C / T
• gnomAD v2: 4-995323-C-T
• gnomAD v4: 4-1001535-C-T
• MyVariant Identifiers: chr4:g.995323C>T (hg19) ; chr4:g.1001535C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1001535C>T , CM000666.2:g.1001535C>T	GRCh38
NC_000004.11:g.995323C>T , CM000666.1:g.995323C>T	GRCh37
NC_000004.10:g.985323C>T	NCBI36
NG_008103.1:g.19539C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000247933.9:c.561C>T	ENSP00000247933.4:p.Asp187=
ENST00000514224.2:c.561C>T MANE Select	ENSP00000425081.2:p.Asp187=
ENST00000652070.1:n.617C>T
ENST00000247933.8:c.561C>T	ENSP00000247933.4:p.Asp187=
ENST00000502910.5:c.420C>T	ENSP00000422952.1:p.Asp140=
ENST00000504568.5:c.521C>T
ENST00000509948.5:c.354C>T	ENSP00000424227.1:p.Asp118=
ENST00000514192.5:c.378C>T	ENSP00000423685.1:p.Asp126=
ENST00000514224.1:c.165C>T	ENSP00000425081.1:p.Asp55=
ENST00000514698.5:n.461C>T
NM_000203.4:c.561C>T	NP_000194.2:p.Asp187=
NR_110313.1:n.649C>T
XM_006713882.2:c.165C>T	XP_006713945.1:p.Asp55=
XM_011513459.1:c.420C>T	XP_011511761.1:p.Asp140=
XM_011513460.1:c.420C>T	XP_011511762.1:p.Asp140=
XM_011513461.1:c.354C>T	XP_011511763.1:p.Asp118=
XM_011513462.1:c.273C>T	XP_011511764.1:p.Asp91=
XM_011513463.1:c.273C>T	XP_011511765.1:p.Asp91=
XR_924947.1:n.630C>T
NM_000203.5:c.561C>T MANE Select	NP_000194.2:p.Asp187=
NM_001363576.1:c.165C>T	NP_001350505.1:p.Asp55=
XM_011513461.2:c.354C>T	XP_011511763.1:p.Asp118=
XM_017008163.1:c.-428C>T	XP_016863652.1:n.-428C>T