Canonical Allele Identifier: CA355963666

Gene: IDUA

Linked Data

• gnomAD v4: 4-1002788-C-G
• MyVariant Identifiers: chr4:g.996576C>G (hg19) ; chr4:g.1002788C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002788C>G , CM000666.2:g.1002788C>G	GRCh38
NC_000004.11:g.996576C>G , CM000666.1:g.996576C>G	GRCh37
NC_000004.10:g.986576C>G	NCBI36
NG_008103.1:g.20792C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1246C>G	ENSP00000247933.4:p.His416Asp
ENST00000514224.2:c.1246C>G MANE Select	ENSP00000425081.2:p.His416Asp
ENST00000652070.1:n.1302C>G
ENST00000247933.8:c.1246C>G	ENSP00000247933.4:p.His416Asp
ENST00000502829.1:n.48C>G
ENST00000514224.1:c.850C>G	ENSP00000425081.1:p.His284Asp
ENST00000514698.5:n.1353C>G
NM_000203.4:c.1246C>G	NP_000194.2:p.His416Asp
NR_110313.1:n.1334C>G
XM_006713882.2:c.850C>G	XP_006713945.1:p.His284Asp
XM_011513459.1:c.1312C>G	XP_011511761.1:p.His438Asp
XM_011513460.1:c.1105C>G	XP_011511762.1:p.His369Asp
XM_011513461.1:c.1039C>G	XP_011511763.1:p.His347Asp
XM_011513462.1:c.958C>G	XP_011511764.1:p.His320Asp
XM_011513463.1:c.958C>G	XP_011511765.1:p.His320Asp
XR_924947.1:n.1315C>G
NM_000203.5:c.1246C>G MANE Select	NP_000194.2:p.His416Asp
NM_001363576.1:c.850C>G	NP_001350505.1:p.His284Asp
XM_011513461.2:c.1039C>G	XP_011511763.1:p.His347Asp
XM_017008163.1:c.286C>G	XP_016863652.1:p.His96Asp