Canonical Allele Identifier: CA438057979

Gene: IDUA

Linked Data

• dbSNP Id: rs760288223
• gnomAD v2: 4-997240-C-T
• gnomAD v4: 4-1003452-C-T
• MyVariant Identifiers: chr4:g.997240C>T (hg19) ; chr4:g.1003452C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003452C>T , CM000666.2:g.1003452C>T	GRCh38
NC_000004.11:g.997240C>T , CM000666.1:g.997240C>T	GRCh37
NC_000004.10:g.987240C>T	NCBI36
NG_008103.1:g.21456C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1632C>T	ENSP00000247933.4:p.Pro544=
ENST00000514224.2:c.1632C>T MANE Select	ENSP00000425081.2:p.Pro544=
ENST00000652070.1:n.1688C>T
ENST00000247933.8:c.1632C>T	ENSP00000247933.4:p.Pro544=
ENST00000514224.1:c.1236C>T	ENSP00000425081.1:p.Pro412=
ENST00000514417.1:n.24C>T
ENST00000514698.5:n.1739C>T
NM_000203.4:c.1632C>T	NP_000194.2:p.Pro544=
NR_110313.1:n.1720C>T
XM_006713882.2:c.1236C>T	XP_006713945.1:p.Pro412=
XM_011513459.1:c.1698C>T	XP_011511761.1:p.Pro566=
XM_011513460.1:c.1491C>T	XP_011511762.1:p.Pro497=
XM_011513461.1:c.1425C>T	XP_011511763.1:p.Pro475=
XM_011513462.1:c.1344C>T	XP_011511764.1:p.Pro448=
XM_011513463.1:c.1344C>T	XP_011511765.1:p.Pro448=
XR_924947.1:n.1888C>T
NM_000203.5:c.1632C>T MANE Select	NP_000194.2:p.Pro544=
NM_001363576.1:c.1236C>T	NP_001350505.1:p.Pro412=
XM_011513461.2:c.1425C>T	XP_011511763.1:p.Pro475=
XM_017008163.1:c.672C>T	XP_016863652.1:p.Pro224=