Canonical Allele Identifier: CA355963327

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002395G>C , CM000666.2:g.1002395G>C	GRCh38
NC_000004.11:g.996183G>C , CM000666.1:g.996183G>C	GRCh37
NC_000004.10:g.986183G>C	NCBI36
NG_008103.1:g.20399G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000203.5:c.1099G>C MANE Select	NP_000194.2:p.Ala367Pro
ENST00000514224.2:c.1099G>C MANE Select	ENSP00000425081.2:p.Ala367Pro
NM_000203.4:c.1099G>C	NP_000194.2:p.Ala367Pro
NM_001363576.1:c.703G>C	NP_001350505.1:p.Ala235Pro
NR_110313.1:n.1187G>C
ENST00000247933.8:c.1099G>C	ENSP00000247933.4:p.Ala367Pro
ENST00000247933.9:c.1099G>C	ENSP00000247933.4:p.Ala367Pro
ENST00000514224.1:c.703G>C	ENSP00000425081.1:p.Ala235Pro
ENST00000514698.5:n.1206G>C
ENST00000652070.1:n.1155G>C
XM_006713882.2:c.703G>C	XP_006713945.1:p.Ala235Pro
XM_011513459.1:c.1165G>C	XP_011511761.1:p.Ala389Pro
XM_011513460.1:c.958G>C	XP_011511762.1:p.Ala320Pro
XM_011513461.1:c.892G>C	XP_011511763.1:p.Ala298Pro
XM_011513461.2:c.892G>C	XP_011511763.1:p.Ala298Pro
XM_011513462.1:c.811G>C	XP_011511764.1:p.Ala271Pro
XM_011513463.1:c.811G>C	XP_011511765.1:p.Ala271Pro
XM_017008163.1:c.139G>C	XP_016863652.1:p.Ala47Pro
XR_924947.1:n.1168G>C