Canonical Allele Identifier: CA355963692

Gene: IDUA

Linked Data

• gnomAD v4: 4-1002794-G-T
• MyVariant Identifiers: chr4:g.996582G>T (hg19) ; chr4:g.1002794G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002794G>T , CM000666.2:g.1002794G>T	GRCh38
NC_000004.11:g.996582G>T , CM000666.1:g.996582G>T	GRCh37
NC_000004.10:g.986582G>T	NCBI36
NG_008103.1:g.20798G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1252G>T	ENSP00000247933.4:p.Val418Leu
ENST00000514224.2:c.1252G>T MANE Select	ENSP00000425081.2:p.Val418Leu
ENST00000652070.1:n.1308G>T
ENST00000247933.8:c.1252G>T	ENSP00000247933.4:p.Val418Leu
ENST00000502829.1:n.54G>T
ENST00000514224.1:c.856G>T	ENSP00000425081.1:p.Val286Leu
ENST00000514698.5:n.1359G>T
NM_000203.4:c.1252G>T	NP_000194.2:p.Val418Leu
NR_110313.1:n.1340G>T
XM_006713882.2:c.856G>T	XP_006713945.1:p.Val286Leu
XM_011513459.1:c.1318G>T	XP_011511761.1:p.Val440Leu
XM_011513460.1:c.1111G>T	XP_011511762.1:p.Val371Leu
XM_011513461.1:c.1045G>T	XP_011511763.1:p.Val349Leu
XM_011513462.1:c.964G>T	XP_011511764.1:p.Val322Leu
XM_011513463.1:c.964G>T	XP_011511765.1:p.Val322Leu
XR_924947.1:n.1321G>T
NM_000203.5:c.1252G>T MANE Select	NP_000194.2:p.Val418Leu
NM_001363576.1:c.856G>T	NP_001350505.1:p.Val286Leu
XM_011513461.2:c.1045G>T	XP_011511763.1:p.Val349Leu
XM_017008163.1:c.292G>T	XP_016863652.1:p.Val98Leu