Canonical Allele Identifier: CA355962236

Gene: IDUA

Linked Data

• MyVariant Identifiers: chr4:g.995649T>C (hg19) ; chr4:g.1001861T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1001861T>C , CM000666.2:g.1001861T>C	GRCh38
NC_000004.11:g.995649T>C , CM000666.1:g.995649T>C	GRCh37
NC_000004.10:g.985649T>C	NCBI36
NG_008103.1:g.19865T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.772T>C	ENSP00000247933.4:p.Tyr258His
ENST00000514224.2:c.772T>C MANE Select	ENSP00000425081.2:p.Tyr258His
ENST00000652070.1:n.828T>C
ENST00000247933.8:c.772T>C	ENSP00000247933.4:p.Tyr258His
ENST00000502910.5:c.631T>C	ENSP00000422952.1:p.Tyr211His
ENST00000514192.5:c.589T>C	ENSP00000423685.1:p.Tyr197His
ENST00000514224.1:c.376T>C	ENSP00000425081.1:p.Tyr126His
ENST00000514698.5:n.672T>C
NM_000203.4:c.772T>C	NP_000194.2:p.Tyr258His
NR_110313.1:n.860T>C
XM_006713882.2:c.376T>C	XP_006713945.1:p.Tyr126His
XM_011513459.1:c.631T>C	XP_011511761.1:p.Tyr211His
XM_011513460.1:c.631T>C	XP_011511762.1:p.Tyr211His
XM_011513461.1:c.565T>C	XP_011511763.1:p.Tyr189His
XM_011513462.1:c.484T>C	XP_011511764.1:p.Tyr162His
XM_011513463.1:c.484T>C	XP_011511765.1:p.Tyr162His
XR_924947.1:n.841T>C
NM_000203.5:c.772T>C MANE Select	NP_000194.2:p.Tyr258His
NM_001363576.1:c.376T>C	NP_001350505.1:p.Tyr126His
XM_011513461.2:c.565T>C	XP_011511763.1:p.Tyr189His
XM_017008163.1:c.-189T>C	XP_016863652.1:n.-189T>C