Canonical Allele Identifier: CA2802102

Gene: IDUA

Linked Data

• ClinVar Variation Id: 1602931
• ClinVar RCV Id: RCV002141655
• dbSNP Id: rs569215528
• ExAC: 4:995790 C / T
• gnomAD v2: 4-995790-C-T
• gnomAD v3: 4-1002002-C-T
• gnomAD v4: 4-1002002-C-T
• COSMIC: COSM3607273 ; COSM3607274
• MyVariant Identifiers: chr4:g.995790C>T (hg19) ; chr4:g.1002002C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002002C>T , CM000666.2:g.1002002C>T	GRCh38
NC_000004.11:g.995790C>T , CM000666.1:g.995790C>T	GRCh37
NC_000004.10:g.985790C>T	NCBI36
NG_008103.1:g.20006C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.813C>T	ENSP00000247933.4:p.Ser271=
ENST00000514224.2:c.813C>T MANE Select	ENSP00000425081.2:p.Ser271=
ENST00000652070.1:n.869C>T
ENST00000247933.8:c.813C>T	ENSP00000247933.4:p.Ser271=
ENST00000502910.5:c.672C>T	ENSP00000422952.1:p.Ser224=
ENST00000514192.5:c.630C>T	ENSP00000423685.1:p.Ser210=
ENST00000514224.1:c.417C>T	ENSP00000425081.1:p.Ser139=
ENST00000514698.5:n.813C>T
NM_000203.4:c.813C>T	NP_000194.2:p.Ser271=
NR_110313.1:n.901C>T
XM_006713882.2:c.417C>T	XP_006713945.1:p.Ser139=
XM_011513459.1:c.772C>T	XP_011511761.1:p.His258Tyr
XM_011513460.1:c.672C>T	XP_011511762.1:p.Ser224=
XM_011513461.1:c.606C>T	XP_011511763.1:p.Ser202=
XM_011513462.1:c.525C>T	XP_011511764.1:p.Ser175=
XM_011513463.1:c.525C>T	XP_011511765.1:p.Ser175=
XR_924947.1:n.882C>T
NM_000203.5:c.813C>T MANE Select	NP_000194.2:p.Ser271=
NM_001363576.1:c.417C>T	NP_001350505.1:p.Ser139=
XM_011513461.2:c.606C>T	XP_011511763.1:p.Ser202=
XM_017008163.1:c.-148C>T	XP_016863652.1:n.-148C>T