Canonical Allele Identifier: CA355962801

Gene: IDUA

Linked Data

• gnomAD v4: 4-1002142-A-T
• MyVariant Identifiers: chr4:g.995930A>T (hg19) ; chr4:g.1002142A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002142A>T , CM000666.2:g.1002142A>T	GRCh38
NC_000004.11:g.995930A>T , CM000666.1:g.995930A>T	GRCh37
NC_000004.10:g.985930A>T	NCBI36
NG_008103.1:g.20146A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.953A>T	ENSP00000247933.4:p.Tyr318Phe
ENST00000514224.2:c.953A>T MANE Select	ENSP00000425081.2:p.Tyr318Phe
ENST00000652070.1:n.1009A>T
ENST00000247933.8:c.953A>T	ENSP00000247933.4:p.Tyr318Phe
ENST00000514224.1:c.557A>T	ENSP00000425081.1:p.Tyr186Phe
ENST00000514698.5:n.953A>T
NM_000203.4:c.953A>T	NP_000194.2:p.Tyr318Phe
NR_110313.1:n.1041A>T
XM_006713882.2:c.557A>T	XP_006713945.1:p.Tyr186Phe
XM_011513459.1:c.912A>T	XP_011511761.1:p.Leu304=
XM_011513460.1:c.812A>T	XP_011511762.1:p.Tyr271Phe
XM_011513461.1:c.746A>T	XP_011511763.1:p.Tyr249Phe
XM_011513462.1:c.665A>T	XP_011511764.1:p.Tyr222Phe
XM_011513463.1:c.665A>T	XP_011511765.1:p.Tyr222Phe
XR_924947.1:n.1022A>T
NM_000203.5:c.953A>T MANE Select	NP_000194.2:p.Tyr318Phe
NM_001363576.1:c.557A>T	NP_001350505.1:p.Tyr186Phe
XM_011513461.2:c.746A>T	XP_011511763.1:p.Tyr249Phe
XM_017008163.1:c.-8A>T	XP_016863652.1:n.-8A>T