Canonical Allele Identifier: CA355963390

Gene: IDUA

Linked Data

• MyVariant Identifiers: chr4:g.996213C>G (hg19) ; chr4:g.1002425C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002425C>G , CM000666.2:g.1002425C>G	GRCh38
NC_000004.11:g.996213C>G , CM000666.1:g.996213C>G	GRCh37
NC_000004.10:g.986213C>G	NCBI36
NG_008103.1:g.20429C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1129C>G	ENSP00000247933.4:p.Pro377Ala
ENST00000514224.2:c.1129C>G MANE Select	ENSP00000425081.2:p.Pro377Ala
ENST00000652070.1:n.1185C>G
ENST00000247933.8:c.1129C>G	ENSP00000247933.4:p.Pro377Ala
ENST00000514224.1:c.733C>G	ENSP00000425081.1:p.Pro245Ala
ENST00000514698.5:n.1236C>G
NM_000203.4:c.1129C>G	NP_000194.2:p.Pro377Ala
NR_110313.1:n.1217C>G
XM_006713882.2:c.733C>G	XP_006713945.1:p.Pro245Ala
XM_011513459.1:c.1195C>G	XP_011511761.1:p.Pro399Ala
XM_011513460.1:c.988C>G	XP_011511762.1:p.Pro330Ala
XM_011513461.1:c.922C>G	XP_011511763.1:p.Pro308Ala
XM_011513462.1:c.841C>G	XP_011511764.1:p.Pro281Ala
XM_011513463.1:c.841C>G	XP_011511765.1:p.Pro281Ala
XR_924947.1:n.1198C>G
NM_000203.5:c.1129C>G MANE Select	NP_000194.2:p.Pro377Ala
NM_001363576.1:c.733C>G	NP_001350505.1:p.Pro245Ala
XM_011513461.2:c.922C>G	XP_011511763.1:p.Pro308Ala
XM_017008163.1:c.169C>G	XP_016863652.1:p.Pro57Ala