Canonical Allele Identifier: CA355963544

Gene: IDUA

Linked Data

• gnomAD v4: 4-1002743-C-T
• MyVariant Identifiers: chr4:g.996531C>T (hg19) ; chr4:g.1002743C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002743C>T , CM000666.2:g.1002743C>T	GRCh38
NC_000004.11:g.996531C>T , CM000666.1:g.996531C>T	GRCh37
NC_000004.10:g.986531C>T	NCBI36
NG_008103.1:g.20747C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1201C>T	ENSP00000247933.4:p.Leu401Phe
ENST00000514224.2:c.1201C>T MANE Select	ENSP00000425081.2:p.Leu401Phe
ENST00000652070.1:n.1257C>T
ENST00000247933.8:c.1201C>T	ENSP00000247933.4:p.Leu401Phe
ENST00000502829.1:n.3C>T
ENST00000514224.1:c.805C>T	ENSP00000425081.1:p.Leu269Phe
ENST00000514698.5:n.1308C>T
NM_000203.4:c.1201C>T	NP_000194.2:p.Leu401Phe
NR_110313.1:n.1289C>T
XM_006713882.2:c.805C>T	XP_006713945.1:p.Leu269Phe
XM_011513459.1:c.1267C>T	XP_011511761.1:p.Leu423Phe
XM_011513460.1:c.1060C>T	XP_011511762.1:p.Leu354Phe
XM_011513461.1:c.994C>T	XP_011511763.1:p.Leu332Phe
XM_011513462.1:c.913C>T	XP_011511764.1:p.Leu305Phe
XM_011513463.1:c.913C>T	XP_011511765.1:p.Leu305Phe
XR_924947.1:n.1270C>T
NM_000203.5:c.1201C>T MANE Select	NP_000194.2:p.Leu401Phe
NM_001363576.1:c.805C>T	NP_001350505.1:p.Leu269Phe
XM_011513461.2:c.994C>T	XP_011511763.1:p.Leu332Phe
XM_017008163.1:c.241C>T	XP_016863652.1:p.Leu81Phe