Canonical Allele Identifier: CA355963195

Gene: IDUA

Linked Data

• MyVariant Identifiers: chr4:g.996142T>C (hg19) ; chr4:g.1002354T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002354T>C , CM000666.2:g.1002354T>C	GRCh38
NC_000004.11:g.996142T>C , CM000666.1:g.996142T>C	GRCh37
NC_000004.10:g.986142T>C	NCBI36
NG_008103.1:g.20358T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1058T>C	ENSP00000247933.4:p.Leu353Pro
ENST00000514224.2:c.1058T>C MANE Select	ENSP00000425081.2:p.Leu353Pro
ENST00000652070.1:n.1114T>C
ENST00000247933.8:c.1058T>C	ENSP00000247933.4:p.Leu353Pro
ENST00000514224.1:c.662T>C	ENSP00000425081.1:p.Leu221Pro
ENST00000514698.5:n.1165T>C
NM_000203.4:c.1058T>C	NP_000194.2:p.Leu353Pro
NR_110313.1:n.1146T>C
XM_006713882.2:c.662T>C	XP_006713945.1:p.Leu221Pro
XM_011513459.1:c.1124T>C	XP_011511761.1:p.Leu375Pro
XM_011513460.1:c.917T>C	XP_011511762.1:p.Leu306Pro
XM_011513461.1:c.851T>C	XP_011511763.1:p.Leu284Pro
XM_011513462.1:c.770T>C	XP_011511764.1:p.Leu257Pro
XM_011513463.1:c.770T>C	XP_011511765.1:p.Leu257Pro
XR_924947.1:n.1127T>C
NM_000203.5:c.1058T>C MANE Select	NP_000194.2:p.Leu353Pro
NM_001363576.1:c.662T>C	NP_001350505.1:p.Leu221Pro
XM_011513461.2:c.851T>C	XP_011511763.1:p.Leu284Pro
XM_017008163.1:c.98T>C	XP_016863652.1:p.Leu33Pro