Canonical Allele Identifier: CA355962776

Gene: IDUA

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.949A>C	ENSP00000247933.4:p.Thr317Pro
ENST00000514224.2:c.949A>C MANE Select	ENSP00000425081.2:p.Thr317Pro
ENST00000652070.1:n.1005A>C
ENST00000247933.8:c.949A>C	ENSP00000247933.4:p.Thr317Pro
ENST00000514224.1:c.553A>C	ENSP00000425081.1:p.Thr185Pro
ENST00000514698.5:n.949A>C
NM_000203.4:c.949A>C	NP_000194.2:p.Thr317Pro
NR_110313.1:n.1037A>C
XM_006713882.2:c.553A>C	XP_006713945.1:p.Thr185Pro
XM_011513459.1:c.908A>C	XP_011511761.1:p.Asp303Ala
XM_011513460.1:c.808A>C	XP_011511762.1:p.Thr270Pro
XM_011513461.1:c.742A>C	XP_011511763.1:p.Thr248Pro
XM_011513462.1:c.661A>C	XP_011511764.1:p.Thr221Pro
XM_011513463.1:c.661A>C	XP_011511765.1:p.Thr221Pro
XR_924947.1:n.1018A>C
NM_000203.5:c.949A>C MANE Select	NP_000194.2:p.Thr317Pro
NM_001363576.1:c.553A>C	NP_001350505.1:p.Thr185Pro
XM_011513461.2:c.742A>C	XP_011511763.1:p.Thr248Pro
XM_017008163.1:c.-12A>C	XP_016863652.1:n.-12A>C