Canonical Allele Identifier: CA355962778

Gene: IDUA

Linked Data

• MyVariant Identifiers: chr4:g.995926A>G (hg19) ; chr4:g.1002138A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002138A>G , CM000666.2:g.1002138A>G	GRCh38
NC_000004.11:g.995926A>G , CM000666.1:g.995926A>G	GRCh37
NC_000004.10:g.985926A>G	NCBI36
NG_008103.1:g.20142A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.949A>G	ENSP00000247933.4:p.Thr317Ala
ENST00000514224.2:c.949A>G MANE Select	ENSP00000425081.2:p.Thr317Ala
ENST00000652070.1:n.1005A>G
ENST00000247933.8:c.949A>G	ENSP00000247933.4:p.Thr317Ala
ENST00000514224.1:c.553A>G	ENSP00000425081.1:p.Thr185Ala
ENST00000514698.5:n.949A>G
NM_000203.4:c.949A>G	NP_000194.2:p.Thr317Ala
NR_110313.1:n.1037A>G
XM_006713882.2:c.553A>G	XP_006713945.1:p.Thr185Ala
XM_011513459.1:c.908A>G	XP_011511761.1:p.Asp303Gly
XM_011513460.1:c.808A>G	XP_011511762.1:p.Thr270Ala
XM_011513461.1:c.742A>G	XP_011511763.1:p.Thr248Ala
XM_011513462.1:c.661A>G	XP_011511764.1:p.Thr221Ala
XM_011513463.1:c.661A>G	XP_011511765.1:p.Thr221Ala
XR_924947.1:n.1018A>G
NM_000203.5:c.949A>G MANE Select	NP_000194.2:p.Thr317Ala
NM_001363576.1:c.553A>G	NP_001350505.1:p.Thr185Ala
XM_011513461.2:c.742A>G	XP_011511763.1:p.Thr248Ala
XM_017008163.1:c.-12A>G	XP_016863652.1:n.-12A>G