Canonical Allele Identifier: CA2802303

Gene: IDUA

Linked Data

• ClinVar Variation Id: 731150
• ClinVar RCV Id: RCV000906054 ; RCV002399999
• dbSNP Id: rs773184536
• ExAC: 4:997195 G / T
• gnomAD v2: 4-997195-G-T
• gnomAD v3: 4-1003407-G-T
• gnomAD v4: 4-1003407-G-T
• MyVariant Identifiers: chr4:g.997195G>T (hg19) ; chr4:g.1003407G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003407G>T , CM000666.2:g.1003407G>T	GRCh38
NC_000004.11:g.997195G>T , CM000666.1:g.997195G>T	GRCh37
NC_000004.10:g.987195G>T	NCBI36
NG_008103.1:g.21411G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1587G>T	ENSP00000247933.4:p.Ala529=
ENST00000514224.2:c.1587G>T MANE Select	ENSP00000425081.2:p.Ala529=
ENST00000652070.1:n.1643G>T
ENST00000247933.8:c.1587G>T	ENSP00000247933.4:p.Ala529=
ENST00000514224.1:c.1191G>T	ENSP00000425081.1:p.Ala397=
ENST00000514698.5:n.1694G>T
NM_000203.4:c.1587G>T	NP_000194.2:p.Ala529=
NR_110313.1:n.1675G>T
XM_006713882.2:c.1191G>T	XP_006713945.1:p.Ala397=
XM_011513459.1:c.1653G>T	XP_011511761.1:p.Ala551=
XM_011513460.1:c.1446G>T	XP_011511762.1:p.Ala482=
XM_011513461.1:c.1380G>T	XP_011511763.1:p.Ala460=
XM_011513462.1:c.1299G>T	XP_011511764.1:p.Ala433=
XM_011513463.1:c.1299G>T	XP_011511765.1:p.Ala433=
XR_924947.1:n.1843G>T
NM_000203.5:c.1587G>T MANE Select	NP_000194.2:p.Ala529=
NM_001363576.1:c.1191G>T	NP_001350505.1:p.Ala397=
XM_011513461.2:c.1380G>T	XP_011511763.1:p.Ala460=
XM_017008163.1:c.627G>T	XP_016863652.1:p.Ala209=