Canonical Allele Identifier: CA784340505

Gene: IDUA

Linked Data

• dbSNP Id: rs1177804478
• gnomAD v4: 4-1003187-G-C
• MyVariant Identifiers: chr4:g.996975G>C (hg19) ; chr4:g.1003187G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003187G>C , CM000666.2:g.1003187G>C	GRCh38
NC_000004.11:g.996975G>C , CM000666.1:g.996975G>C	GRCh37
NC_000004.10:g.986975G>C	NCBI36
NG_008103.1:g.21191G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1524+30G>C	ENSP00000247933.4:n.1524+30G>C
ENST00000514224.2:c.1524+30G>C MANE Select	ENSP00000425081.2:n.1524+30G>C
ENST00000652070.1:n.1580+30G>C
ENST00000247933.8:c.1524+30G>C	ENSP00000247933.4:n.1524+30G>C
ENST00000502829.1:n.356G>C
ENST00000514224.1:c.1128+30G>C	ENSP00000425081.1:n.1128+30G>C
ENST00000514698.5:n.1631+30G>C
NM_000203.4:c.1524+30G>C	NP_000194.2:n.1524+30G>C
NR_110313.1:n.1612+30G>C
XM_006713882.2:c.1128+30G>C	XP_006713945.1:n.1128+30G>C
XM_011513459.1:c.1590+30G>C	XP_011511761.1:n.1590+30G>C
XM_011513460.1:c.1383+30G>C	XP_011511762.1:n.1383+30G>C
XM_011513461.1:c.1317+30G>C	XP_011511763.1:n.1317+30G>C
XM_011513462.1:c.1236+30G>C	XP_011511764.1:n.1236+30G>C
XM_011513463.1:c.1236+30G>C	XP_011511765.1:n.1236+30G>C
XR_924947.1:n.1623G>C
NM_000203.5:c.1524+30G>C MANE Select	NP_000194.2:n.1524+30G>C
NM_001363576.1:c.1128+30G>C	NP_001350505.1:n.1128+30G>C
XM_011513461.2:c.1317+30G>C	XP_011511763.1:n.1317+30G>C
XM_017008163.1:c.564+30G>C	XP_016863652.1:n.564+30G>C