Canonical Allele Identifier: CA355965095

Gene: IDUA

Linked Data

• gnomAD v4: 4-1003450-C-T
• MyVariant Identifiers: chr4:g.997238C>T (hg19) ; chr4:g.1003450C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003450C>T , CM000666.2:g.1003450C>T	GRCh38
NC_000004.11:g.997238C>T , CM000666.1:g.997238C>T	GRCh37
NC_000004.10:g.987238C>T	NCBI36
NG_008103.1:g.21454C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1630C>T	ENSP00000247933.4:p.Pro544Ser
ENST00000514224.2:c.1630C>T MANE Select	ENSP00000425081.2:p.Pro544Ser
ENST00000652070.1:n.1686C>T
ENST00000247933.8:c.1630C>T	ENSP00000247933.4:p.Pro544Ser
ENST00000514224.1:c.1234C>T	ENSP00000425081.1:p.Pro412Ser
ENST00000514417.1:n.22C>T
ENST00000514698.5:n.1737C>T
NM_000203.4:c.1630C>T	NP_000194.2:p.Pro544Ser
NR_110313.1:n.1718C>T
XM_006713882.2:c.1234C>T	XP_006713945.1:p.Pro412Ser
XM_011513459.1:c.1696C>T	XP_011511761.1:p.Pro566Ser
XM_011513460.1:c.1489C>T	XP_011511762.1:p.Pro497Ser
XM_011513461.1:c.1423C>T	XP_011511763.1:p.Pro475Ser
XM_011513462.1:c.1342C>T	XP_011511764.1:p.Pro448Ser
XM_011513463.1:c.1342C>T	XP_011511765.1:p.Pro448Ser
XR_924947.1:n.1886C>T
NM_000203.5:c.1630C>T MANE Select	NP_000194.2:p.Pro544Ser
NM_001363576.1:c.1234C>T	NP_001350505.1:p.Pro412Ser
XM_011513461.2:c.1423C>T	XP_011511763.1:p.Pro475Ser
XM_017008163.1:c.670C>T	XP_016863652.1:p.Pro224Ser