Canonical Allele Identifier: CA438057673

Gene: IDUA

Linked Data

• MyVariant Identifiers: chr4:g.996086G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002298G>C , CM000666.2:g.1002298G>C	GRCh38
NC_000004.11:g.996086G>C , CM000666.1:g.996086G>C	GRCh37
NC_000004.10:g.986086G>C	NCBI36
NG_008103.1:g.20302G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000247933.9:c.1002G>C	ENSP00000247933.4:p.Leu334=
ENST00000514224.2:c.1002G>C MANE Select	ENSP00000425081.2:p.Leu334=
ENST00000652070.1:n.1058G>C
ENST00000247933.8:c.1002G>C	ENSP00000247933.4:p.Leu334=
ENST00000514224.1:c.606G>C	ENSP00000425081.1:p.Leu202=
ENST00000514698.5:n.1109G>C
NM_000203.4:c.1002G>C	NP_000194.2:p.Leu334=
NR_110313.1:n.1090G>C
XM_006713882.2:c.606G>C	XP_006713945.1:p.Leu202=
XM_011513459.1:c.1068G>C	XP_011511761.1:p.Leu356=
XM_011513460.1:c.861G>C	XP_011511762.1:p.Leu287=
XM_011513461.1:c.795G>C	XP_011511763.1:p.Leu265=
XM_011513462.1:c.714G>C	XP_011511764.1:p.Leu238=
XM_011513463.1:c.714G>C	XP_011511765.1:p.Leu238=
XR_924947.1:n.1071G>C
NM_000203.5:c.1002G>C MANE Select	NP_000194.2:p.Leu334=
NM_001363576.1:c.606G>C	NP_001350505.1:p.Leu202=
XM_011513461.2:c.795G>C	XP_011511763.1:p.Leu265=
XM_017008163.1:c.42G>C	XP_016863652.1:p.Leu14=