Canonical Allele Identifier: CA355962966

Gene: IDUA

Linked Data

• MyVariant Identifiers: chr4:g.996072C>T (hg19) ; chr4:g.1002284C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002284C>T , CM000666.2:g.1002284C>T	GRCh38
NC_000004.11:g.996072C>T , CM000666.1:g.996072C>T	GRCh37
NC_000004.10:g.986072C>T	NCBI36
NG_008103.1:g.20288C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000247933.9:c.988C>T	ENSP00000247933.4:p.Gln330Ter
ENST00000514224.2:c.988C>T MANE Select	ENSP00000425081.2:p.Gln330Ter
ENST00000652070.1:n.1044C>T
ENST00000247933.8:c.988C>T	ENSP00000247933.4:p.Gln330Ter
ENST00000514224.1:c.592C>T	ENSP00000425081.1:p.Gln198Ter
ENST00000514698.5:n.1095C>T
NM_000203.4:c.988C>T	NP_000194.2:p.Gln330Ter
NR_110313.1:n.1076C>T
XM_006713882.2:c.592C>T	XP_006713945.1:p.Gln198Ter
XM_011513459.1:c.1054C>T	XP_011511761.1:p.Gln352Ter
XM_011513460.1:c.847C>T	XP_011511762.1:p.Gln283Ter
XM_011513461.1:c.781C>T	XP_011511763.1:p.Gln261Ter
XM_011513462.1:c.700C>T	XP_011511764.1:p.Gln234Ter
XM_011513463.1:c.700C>T	XP_011511765.1:p.Gln234Ter
XR_924947.1:n.1057C>T
NM_000203.5:c.988C>T MANE Select	NP_000194.2:p.Gln330Ter
NM_001363576.1:c.592C>T	NP_001350505.1:p.Gln198Ter
XM_011513461.2:c.781C>T	XP_011511763.1:p.Gln261Ter
XM_017008163.1:c.28C>T	XP_016863652.1:p.Gln10Ter