Canonical Allele Identifier: CA355962337

Gene: IDUA

Linked Data

• gnomAD v4: 4-1002007-T-C
• MyVariant Identifiers: chr4:g.995795T>C (hg19) ; chr4:g.1002007T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002007T>C , CM000666.2:g.1002007T>C	GRCh38
NC_000004.11:g.995795T>C , CM000666.1:g.995795T>C	GRCh37
NC_000004.10:g.985795T>C	NCBI36
NG_008103.1:g.20011T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.818T>C	ENSP00000247933.4:p.Leu273Pro
ENST00000514224.2:c.818T>C MANE Select	ENSP00000425081.2:p.Leu273Pro
ENST00000652070.1:n.874T>C
ENST00000247933.8:c.818T>C	ENSP00000247933.4:p.Leu273Pro
ENST00000514192.5:c.635T>C	ENSP00000423685.1:p.Leu212Pro
ENST00000514224.1:c.422T>C	ENSP00000425081.1:p.Leu141Pro
ENST00000514698.5:n.818T>C
NM_000203.4:c.818T>C	NP_000194.2:p.Leu273Pro
NR_110313.1:n.906T>C
XM_006713882.2:c.422T>C	XP_006713945.1:p.Leu141Pro
XM_011513459.1:c.777T>C	XP_011511761.1:p.Pro259=
XM_011513460.1:c.677T>C	XP_011511762.1:p.Leu226Pro
XM_011513461.1:c.611T>C	XP_011511763.1:p.Leu204Pro
XM_011513462.1:c.530T>C	XP_011511764.1:p.Leu177Pro
XM_011513463.1:c.530T>C	XP_011511765.1:p.Leu177Pro
XR_924947.1:n.887T>C
NM_000203.5:c.818T>C MANE Select	NP_000194.2:p.Leu273Pro
NM_001363576.1:c.422T>C	NP_001350505.1:p.Leu141Pro
XM_011513461.2:c.611T>C	XP_011511763.1:p.Leu204Pro
XM_017008163.1:c.-143T>C	XP_016863652.1:n.-143T>C