Canonical Allele Identifier: CA549264523

Gene: IDUA

Linked Data

• dbSNP Id: rs1216236648
• gnomAD v2: 4-996015-G-T
• gnomAD v4: 4-1002227-G-T
• MyVariant Identifiers: chr4:g.996015G>T (hg19) ; chr4:g.1002227G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002227G>T , CM000666.2:g.1002227G>T	GRCh38
NC_000004.11:g.996015G>T , CM000666.1:g.996015G>T	GRCh37
NC_000004.10:g.986015G>T	NCBI36
NG_008103.1:g.20231G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.973-42G>T	ENSP00000247933.4:n.973-42G>T
ENST00000514224.2:c.973-42G>T MANE Select	ENSP00000425081.2:n.973-42G>T
ENST00000652070.1:n.1029-42G>T
ENST00000247933.8:c.973-42G>T	ENSP00000247933.4:n.973-42G>T
ENST00000514224.1:c.577-42G>T	ENSP00000425081.1:n.577-42G>T
ENST00000514698.5:n.1038G>T
NM_000203.4:c.973-42G>T	NP_000194.2:n.973-42G>T
NR_110313.1:n.1061-42G>T
XM_006713882.2:c.577-42G>T	XP_006713945.1:n.577-42G>T
XM_011513459.1:c.997G>T	XP_011511761.1:p.Val333Leu
XM_011513460.1:c.832-42G>T	XP_011511762.1:n.832-42G>T
XM_011513461.1:c.766-42G>T	XP_011511763.1:n.766-42G>T
XM_011513462.1:c.685-42G>T	XP_011511764.1:n.685-42G>T
XM_011513463.1:c.685-42G>T	XP_011511765.1:n.685-42G>T
XR_924947.1:n.1042-42G>T
NM_000203.5:c.973-42G>T MANE Select	NP_000194.2:n.973-42G>T
NM_001363576.1:c.577-42G>T	NP_001350505.1:n.577-42G>T
XM_011513461.2:c.766-42G>T	XP_011511763.1:n.766-42G>T
XM_017008163.1:c.13-42G>T	XP_016863652.1:n.13-42G>T