Canonical Allele Identifier: CA355965948

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1004299T>C , CM000666.2:g.1004299T>C	GRCh38
NC_000004.11:g.998087T>C , CM000666.1:g.998087T>C	GRCh37
NC_000004.10:g.988087T>C	NCBI36
NG_008103.1:g.22303T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000203.5:c.1868T>C MANE Select	NP_000194.2:p.Leu623Pro
ENST00000514224.2:c.1868T>C MANE Select	ENSP00000425081.2:p.Leu623Pro
NM_000203.4:c.1868T>C	NP_000194.2:p.Leu623Pro
NM_001363576.1:c.1472T>C	NP_001350505.1:p.Leu491Pro
NR_110313.1:n.1960T>C
ENST00000247933.8:c.1868T>C	ENSP00000247933.4:p.Leu623Pro
ENST00000247933.9:c.1868T>C	ENSP00000247933.4:p.Leu623Pro
ENST00000514224.1:c.1472T>C	ENSP00000425081.1:p.Leu491Pro
ENST00000514698.5:n.1979T>C
ENST00000652070.1:n.1924T>C
XM_006713882.2:c.1472T>C	XP_006713945.1:p.Leu491Pro
XM_011513459.1:c.1934T>C	XP_011511761.1:p.Leu645Pro
XM_011513460.1:c.1727T>C	XP_011511762.1:p.Leu576Pro
XM_011513461.1:c.1661T>C	XP_011511763.1:p.Leu554Pro
XM_011513461.2:c.1661T>C	XP_011511763.1:p.Leu554Pro
XM_011513462.1:c.1580T>C	XP_011511764.1:p.Leu527Pro
XM_011513463.1:c.1580T>C	XP_011511765.1:p.Leu527Pro
XM_017008163.1:c.908T>C	XP_016863652.1:p.Leu303Pro
XR_924947.1:n.2128T>C