Canonical Allele Identifier: CA355965222

Gene: IDUA

Linked Data

• dbSNP Id: rs1231384581
• gnomAD v2: 4-997379-G-T
• gnomAD v4: 4-1003591-G-T
• MyVariant Identifiers: chr4:g.997379G>T (hg19) ; chr4:g.1003591G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003591G>T , CM000666.2:g.1003591G>T	GRCh38
NC_000004.11:g.997379G>T , CM000666.1:g.997379G>T	GRCh37
NC_000004.10:g.987379G>T	NCBI36
NG_008103.1:g.21595G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1693G>T	ENSP00000247933.4:p.Val565Phe
ENST00000514224.2:c.1693G>T MANE Select	ENSP00000425081.2:p.Val565Phe
ENST00000652070.1:n.1749G>T
ENST00000247933.8:c.1693G>T	ENSP00000247933.4:p.Val565Phe
ENST00000514224.1:c.1297G>T	ENSP00000425081.1:p.Val433Phe
ENST00000514417.1:n.85G>T
ENST00000514698.5:n.1800G>T
NM_000203.4:c.1693G>T	NP_000194.2:p.Val565Phe
NR_110313.1:n.1781G>T
XM_006713882.2:c.1297G>T	XP_006713945.1:p.Val433Phe
XM_011513459.1:c.1759G>T	XP_011511761.1:p.Val587Phe
XM_011513460.1:c.1552G>T	XP_011511762.1:p.Val518Phe
XM_011513461.1:c.1486G>T	XP_011511763.1:p.Val496Phe
XM_011513462.1:c.1405G>T	XP_011511764.1:p.Val469Phe
XM_011513463.1:c.1405G>T	XP_011511765.1:p.Val469Phe
XR_924947.1:n.1949G>T
NM_000203.5:c.1693G>T MANE Select	NP_000194.2:p.Val565Phe
NM_001363576.1:c.1297G>T	NP_001350505.1:p.Val433Phe
XM_011513461.2:c.1486G>T	XP_011511763.1:p.Val496Phe
XM_017008163.1:c.733G>T	XP_016863652.1:p.Val245Phe