Canonical Allele Identifier: CA2802343

Gene: IDUA

Linked Data

• dbSNP Id: rs150008131
• ExAC: 4:997343 C / T
• gnomAD v2: 4-997343-C-T
• gnomAD v4: 4-1003555-C-T
• MyVariant Identifiers: chr4:g.997343C>T (hg19) ; chr4:g.1003555C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003555C>T , CM000666.2:g.1003555C>T	GRCh38
NC_000004.11:g.997343C>T , CM000666.1:g.997343C>T	GRCh37
NC_000004.10:g.987343C>T	NCBI36
NG_008103.1:g.21559C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1657C>T	ENSP00000247933.4:p.Arg553Trp
ENST00000514224.2:c.1657C>T MANE Select	ENSP00000425081.2:p.Arg553Trp
ENST00000652070.1:n.1713C>T
ENST00000247933.8:c.1657C>T	ENSP00000247933.4:p.Arg553Trp
ENST00000514224.1:c.1261C>T	ENSP00000425081.1:p.Arg421Trp
ENST00000514417.1:n.49C>T
ENST00000514698.5:n.1764C>T
NM_000203.4:c.1657C>T	NP_000194.2:p.Arg553Trp
NR_110313.1:n.1745C>T
XM_006713882.2:c.1261C>T	XP_006713945.1:p.Arg421Trp
XM_011513459.1:c.1723C>T	XP_011511761.1:p.Arg575Trp
XM_011513460.1:c.1516C>T	XP_011511762.1:p.Arg506Trp
XM_011513461.1:c.1450C>T	XP_011511763.1:p.Arg484Trp
XM_011513462.1:c.1369C>T	XP_011511764.1:p.Arg457Trp
XM_011513463.1:c.1369C>T	XP_011511765.1:p.Arg457Trp
XR_924947.1:n.1913C>T
NM_000203.5:c.1657C>T MANE Select	NP_000194.2:p.Arg553Trp
NM_001363576.1:c.1261C>T	NP_001350505.1:p.Arg421Trp
XM_011513461.2:c.1450C>T	XP_011511763.1:p.Arg484Trp
XM_017008163.1:c.697C>T	XP_016863652.1:p.Arg233Trp