Canonical Allele Identifier: CA2802101

Gene: IDUA

Linked Data

• ClinVar Variation Id: 640514
• ClinVar RCV Id: RCV000793555
• dbSNP Id: rs766950553
• ExAC: 4:995789 C / T
• gnomAD v2: 4-995789-C-T
• gnomAD v3: 4-1002001-C-T
• gnomAD v4: 4-1002001-C-T
• MyVariant Identifiers: chr4:g.995789C>T (hg19) ; chr4:g.1002001C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002001C>T , CM000666.2:g.1002001C>T	GRCh38
NC_000004.11:g.995789C>T , CM000666.1:g.995789C>T	GRCh37
NC_000004.10:g.985789C>T	NCBI36
NG_008103.1:g.20005C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.812C>T	ENSP00000247933.4:p.Ser271Phe
ENST00000514224.2:c.812C>T MANE Select	ENSP00000425081.2:p.Ser271Phe
ENST00000652070.1:n.868C>T
ENST00000247933.8:c.812C>T	ENSP00000247933.4:p.Ser271Phe
ENST00000502910.5:c.671C>T	ENSP00000422952.1:p.Ser224Phe
ENST00000514192.5:c.629C>T	ENSP00000423685.1:p.Ser210Phe
ENST00000514224.1:c.416C>T	ENSP00000425081.1:p.Ser139Phe
ENST00000514698.5:n.812C>T
NM_000203.4:c.812C>T	NP_000194.2:p.Ser271Phe
NR_110313.1:n.900C>T
XM_006713882.2:c.416C>T	XP_006713945.1:p.Ser139Phe
XM_011513459.1:c.771C>T	XP_011511761.1:p.Leu257=
XM_011513460.1:c.671C>T	XP_011511762.1:p.Ser224Phe
XM_011513461.1:c.605C>T	XP_011511763.1:p.Ser202Phe
XM_011513462.1:c.524C>T	XP_011511764.1:p.Ser175Phe
XM_011513463.1:c.524C>T	XP_011511765.1:p.Ser175Phe
XR_924947.1:n.881C>T
NM_000203.5:c.812C>T MANE Select	NP_000194.2:p.Ser271Phe
NM_001363576.1:c.416C>T	NP_001350505.1:p.Ser139Phe
XM_011513461.2:c.605C>T	XP_011511763.1:p.Ser202Phe
XM_017008163.1:c.-149C>T	XP_016863652.1:n.-149C>T