Canonical Allele Identifier: CA355962353

Gene: IDUA

Linked Data

• MyVariant Identifiers: chr4:g.995802G>C (hg19) ; chr4:g.1002014G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002014G>C , CM000666.2:g.1002014G>C	GRCh38
NC_000004.11:g.995802G>C , CM000666.1:g.995802G>C	GRCh37
NC_000004.10:g.985802G>C	NCBI36
NG_008103.1:g.20018G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.825G>C	ENSP00000247933.4:p.Gln275His
ENST00000514224.2:c.825G>C MANE Select	ENSP00000425081.2:p.Gln275His
ENST00000652070.1:n.881G>C
ENST00000247933.8:c.825G>C	ENSP00000247933.4:p.Gln275His
ENST00000514192.5:c.642G>C	ENSP00000423685.1:p.Gln214His
ENST00000514224.1:c.429G>C	ENSP00000425081.1:p.Gln143His
ENST00000514698.5:n.825G>C
NM_000203.4:c.825G>C	NP_000194.2:p.Gln275His
NR_110313.1:n.913G>C
XM_006713882.2:c.429G>C	XP_006713945.1:p.Gln143His
XM_011513459.1:c.784G>C	XP_011511761.1:p.Gly262Arg
XM_011513460.1:c.684G>C	XP_011511762.1:p.Gln228His
XM_011513461.1:c.618G>C	XP_011511763.1:p.Gln206His
XM_011513462.1:c.537G>C	XP_011511764.1:p.Gln179His
XM_011513463.1:c.537G>C	XP_011511765.1:p.Gln179His
XR_924947.1:n.894G>C
NM_000203.5:c.825G>C MANE Select	NP_000194.2:p.Gln275His
NM_001363576.1:c.429G>C	NP_001350505.1:p.Gln143His
XM_011513461.2:c.618G>C	XP_011511763.1:p.Gln206His
XM_017008163.1:c.-136G>C	XP_016863652.1:n.-136G>C