Canonical Allele Identifier: CA438058074

Gene: IDUA

Linked Data

• dbSNP Id: rs1253075699
• gnomAD v2: 4-997402-C-T
• MyVariant Identifiers: chr4:g.997402C>T (hg19) ; chr4:g.1003614C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003614C>T , CM000666.2:g.1003614C>T	GRCh38
NC_000004.11:g.997402C>T , CM000666.1:g.997402C>T	GRCh37
NC_000004.10:g.987402C>T	NCBI36
NG_008103.1:g.21618C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1716C>T	ENSP00000247933.4:p.His572=
ENST00000514224.2:c.1716C>T MANE Select	ENSP00000425081.2:p.His572=
ENST00000652070.1:n.1772C>T
ENST00000247933.8:c.1716C>T	ENSP00000247933.4:p.His572=
ENST00000514224.1:c.1320C>T	ENSP00000425081.1:p.His440=
ENST00000514417.1:n.108C>T
ENST00000514698.5:n.1823C>T
NM_000203.4:c.1716C>T	NP_000194.2:p.His572=
NR_110313.1:n.1804C>T
XM_006713882.2:c.1320C>T	XP_006713945.1:p.His440=
XM_011513459.1:c.1782C>T	XP_011511761.1:p.His594=
XM_011513460.1:c.1575C>T	XP_011511762.1:p.His525=
XM_011513461.1:c.1509C>T	XP_011511763.1:p.His503=
XM_011513462.1:c.1428C>T	XP_011511764.1:p.His476=
XM_011513463.1:c.1428C>T	XP_011511765.1:p.His476=
XR_924947.1:n.1972C>T
NM_000203.5:c.1716C>T MANE Select	NP_000194.2:p.His572=
NM_001363576.1:c.1320C>T	NP_001350505.1:p.His440=
XM_011513461.2:c.1509C>T	XP_011511763.1:p.His503=
XM_017008163.1:c.756C>T	XP_016863652.1:p.His252=