Canonical Allele Identifier: CA355962239

Gene: IDUA

Linked Data

• MyVariant Identifiers: chr4:g.995650A>T (hg19) ; chr4:g.1001862A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1001862A>T , CM000666.2:g.1001862A>T	GRCh38
NC_000004.11:g.995650A>T , CM000666.1:g.995650A>T	GRCh37
NC_000004.10:g.985650A>T	NCBI36
NG_008103.1:g.19866A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.773A>T	ENSP00000247933.4:p.Tyr258Phe
ENST00000514224.2:c.773A>T MANE Select	ENSP00000425081.2:p.Tyr258Phe
ENST00000652070.1:n.829A>T
ENST00000247933.8:c.773A>T	ENSP00000247933.4:p.Tyr258Phe
ENST00000502910.5:c.632A>T	ENSP00000422952.1:p.Tyr211Phe
ENST00000514192.5:c.590A>T	ENSP00000423685.1:p.Tyr197Phe
ENST00000514224.1:c.377A>T	ENSP00000425081.1:p.Tyr126Phe
ENST00000514698.5:n.673A>T
NM_000203.4:c.773A>T	NP_000194.2:p.Tyr258Phe
NR_110313.1:n.861A>T
XM_006713882.2:c.377A>T	XP_006713945.1:p.Tyr126Phe
XM_011513459.1:c.632A>T	XP_011511761.1:p.Tyr211Phe
XM_011513460.1:c.632A>T	XP_011511762.1:p.Tyr211Phe
XM_011513461.1:c.566A>T	XP_011511763.1:p.Tyr189Phe
XM_011513462.1:c.485A>T	XP_011511764.1:p.Tyr162Phe
XM_011513463.1:c.485A>T	XP_011511765.1:p.Tyr162Phe
XR_924947.1:n.842A>T
NM_000203.5:c.773A>T MANE Select	NP_000194.2:p.Tyr258Phe
NM_001363576.1:c.377A>T	NP_001350505.1:p.Tyr126Phe
XM_011513461.2:c.566A>T	XP_011511763.1:p.Tyr189Phe
XM_017008163.1:c.-188A>T	XP_016863652.1:n.-188A>T