Canonical Allele Identifier: CA91169040

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002336G>C , CM000666.2:g.1002336G>C	GRCh38
NC_000004.11:g.996124G>C , CM000666.1:g.996124G>C	GRCh37
NC_000004.10:g.986124G>C	NCBI36
NG_008103.1:g.20340G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000203.5:c.1040G>C MANE Select	NP_000194.2:p.Ser347Thr
ENST00000514224.2:c.1040G>C MANE Select	ENSP00000425081.2:p.Ser347Thr
NM_000203.4:c.1040G>C	NP_000194.2:p.Ser347Thr
NM_001363576.1:c.644G>C	NP_001350505.1:p.Ser215Thr
NR_110313.1:n.1128G>C
ENST00000247933.8:c.1040G>C	ENSP00000247933.4:p.Ser347Thr
ENST00000247933.9:c.1040G>C	ENSP00000247933.4:p.Ser347Thr
ENST00000514224.1:c.644G>C	ENSP00000425081.1:p.Ser215Thr
ENST00000514698.5:n.1147G>C
ENST00000652070.1:n.1096G>C
XM_006713882.2:c.644G>C	XP_006713945.1:p.Ser215Thr
XM_011513459.1:c.1106G>C	XP_011511761.1:p.Ser369Thr
XM_011513460.1:c.899G>C	XP_011511762.1:p.Ser300Thr
XM_011513461.1:c.833G>C	XP_011511763.1:p.Ser278Thr
XM_011513461.2:c.833G>C	XP_011511763.1:p.Ser278Thr
XM_011513462.1:c.752G>C	XP_011511764.1:p.Ser251Thr
XM_011513463.1:c.752G>C	XP_011511765.1:p.Ser251Thr
XM_017008163.1:c.80G>C	XP_016863652.1:p.Ser27Thr
XR_924947.1:n.1109G>C