Canonical Allele Identifier: CA355962309

Gene: IDUA

Linked Data

• gnomAD v4: 4-1001992-G-T
• MyVariant Identifiers: chr4:g.995780G>T (hg19) ; chr4:g.1001992G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1001992G>T , CM000666.2:g.1001992G>T	GRCh38
NC_000004.11:g.995780G>T , CM000666.1:g.995780G>T	GRCh37
NC_000004.10:g.985780G>T	NCBI36
NG_008103.1:g.19996G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.803G>T	ENSP00000247933.4:p.Ser268Ile
ENST00000514224.2:c.803G>T MANE Select	ENSP00000425081.2:p.Ser268Ile
ENST00000652070.1:n.859G>T
ENST00000247933.8:c.803G>T	ENSP00000247933.4:p.Ser268Ile
ENST00000502910.5:c.662G>T	ENSP00000422952.1:p.Ser221Ile
ENST00000514192.5:c.620G>T	ENSP00000423685.1:p.Ser207Ile
ENST00000514224.1:c.407G>T	ENSP00000425081.1:p.Ser136Ile
ENST00000514698.5:n.803G>T
NM_000203.4:c.803G>T	NP_000194.2:p.Ser268Ile
NR_110313.1:n.891G>T
XM_006713882.2:c.407G>T	XP_006713945.1:p.Ser136Ile
XM_011513459.1:c.762G>T	XP_011511761.1:p.Gln254His
XM_011513460.1:c.662G>T	XP_011511762.1:p.Ser221Ile
XM_011513461.1:c.596G>T	XP_011511763.1:p.Ser199Ile
XM_011513462.1:c.515G>T	XP_011511764.1:p.Ser172Ile
XM_011513463.1:c.515G>T	XP_011511765.1:p.Ser172Ile
XR_924947.1:n.872G>T
NM_000203.5:c.803G>T MANE Select	NP_000194.2:p.Ser268Ile
NM_001363576.1:c.407G>T	NP_001350505.1:p.Ser136Ile
XM_011513461.2:c.596G>T	XP_011511763.1:p.Ser199Ile
XM_017008163.1:c.-158G>T	XP_016863652.1:n.-158G>T