Canonical Allele Identifier: CA355965069

Gene: IDUA

Linked Data

• dbSNP Id: rs1577543889
• gnomAD v4: 4-1003438-G-C
• MyVariant Identifiers: chr4:g.997226G>C (hg19) ; chr4:g.1003438G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003438G>C , CM000666.2:g.1003438G>C	GRCh38
NC_000004.11:g.997226G>C , CM000666.1:g.997226G>C	GRCh37
NC_000004.10:g.987226G>C	NCBI36
NG_008103.1:g.21442G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1618G>C	ENSP00000247933.4:p.Val540Leu
ENST00000514224.2:c.1618G>C MANE Select	ENSP00000425081.2:p.Val540Leu
ENST00000652070.1:n.1674G>C
ENST00000247933.8:c.1618G>C	ENSP00000247933.4:p.Val540Leu
ENST00000514224.1:c.1222G>C	ENSP00000425081.1:p.Val408Leu
ENST00000514417.1:n.10G>C
ENST00000514698.5:n.1725G>C
NM_000203.4:c.1618G>C	NP_000194.2:p.Val540Leu
NR_110313.1:n.1706G>C
XM_006713882.2:c.1222G>C	XP_006713945.1:p.Val408Leu
XM_011513459.1:c.1684G>C	XP_011511761.1:p.Val562Leu
XM_011513460.1:c.1477G>C	XP_011511762.1:p.Val493Leu
XM_011513461.1:c.1411G>C	XP_011511763.1:p.Val471Leu
XM_011513462.1:c.1330G>C	XP_011511764.1:p.Val444Leu
XM_011513463.1:c.1330G>C	XP_011511765.1:p.Val444Leu
XR_924947.1:n.1874G>C
NM_000203.5:c.1618G>C MANE Select	NP_000194.2:p.Val540Leu
NM_001363576.1:c.1222G>C	NP_001350505.1:p.Val408Leu
XM_011513461.2:c.1411G>C	XP_011511763.1:p.Val471Leu
XM_017008163.1:c.658G>C	XP_016863652.1:p.Val220Leu