Canonical Allele Identifier: CA438057377

Gene: IDUA

Linked Data

• ClinVar Variation Id: 3009193
• ClinVar RCV Id: RCV003869344
• dbSNP Id: rs1276524614
• gnomAD v2: 4-995651-C-T
• gnomAD v4: 4-1001863-C-T
• MyVariant Identifiers: chr4:g.995651C>T (hg19) ; chr4:g.1001863C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1001863C>T , CM000666.2:g.1001863C>T	GRCh38
NC_000004.11:g.995651C>T , CM000666.1:g.995651C>T	GRCh37
NC_000004.10:g.985651C>T	NCBI36
NG_008103.1:g.19867C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.774C>T	ENSP00000247933.4:p.Tyr258=
ENST00000514224.2:c.774C>T MANE Select	ENSP00000425081.2:p.Tyr258=
ENST00000652070.1:n.830C>T
ENST00000247933.8:c.774C>T	ENSP00000247933.4:p.Tyr258=
ENST00000502910.5:c.633C>T	ENSP00000422952.1:p.Tyr211=
ENST00000514192.5:c.591C>T	ENSP00000423685.1:p.Tyr197=
ENST00000514224.1:c.378C>T	ENSP00000425081.1:p.Tyr126=
ENST00000514698.5:n.674C>T
NM_000203.4:c.774C>T	NP_000194.2:p.Tyr258=
NR_110313.1:n.862C>T
XM_006713882.2:c.378C>T	XP_006713945.1:p.Tyr126=
XM_011513459.1:c.633C>T	XP_011511761.1:p.Tyr211=
XM_011513460.1:c.633C>T	XP_011511762.1:p.Tyr211=
XM_011513461.1:c.567C>T	XP_011511763.1:p.Tyr189=
XM_011513462.1:c.486C>T	XP_011511764.1:p.Tyr162=
XM_011513463.1:c.486C>T	XP_011511765.1:p.Tyr162=
XR_924947.1:n.843C>T
NM_000203.5:c.774C>T MANE Select	NP_000194.2:p.Tyr258=
NM_001363576.1:c.378C>T	NP_001350505.1:p.Tyr126=
XM_011513461.2:c.567C>T	XP_011511763.1:p.Tyr189=
XM_017008163.1:c.-187C>T	XP_016863652.1:n.-187C>T