Canonical Allele Identifier: CA355965231

Gene: IDUA

Linked Data

• gnomAD v4: 4-1003597-G-C
• MyVariant Identifiers: chr4:g.997385G>C (hg19) ; chr4:g.1003597G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003597G>C , CM000666.2:g.1003597G>C	GRCh38
NC_000004.11:g.997385G>C , CM000666.1:g.997385G>C	GRCh37
NC_000004.10:g.987385G>C	NCBI36
NG_008103.1:g.21601G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1699G>C	ENSP00000247933.4:p.Val567Leu
ENST00000514224.2:c.1699G>C MANE Select	ENSP00000425081.2:p.Val567Leu
ENST00000652070.1:n.1755G>C
ENST00000247933.8:c.1699G>C	ENSP00000247933.4:p.Val567Leu
ENST00000514224.1:c.1303G>C	ENSP00000425081.1:p.Val435Leu
ENST00000514417.1:n.91G>C
ENST00000514698.5:n.1806G>C
NM_000203.4:c.1699G>C	NP_000194.2:p.Val567Leu
NR_110313.1:n.1787G>C
XM_006713882.2:c.1303G>C	XP_006713945.1:p.Val435Leu
XM_011513459.1:c.1765G>C	XP_011511761.1:p.Val589Leu
XM_011513460.1:c.1558G>C	XP_011511762.1:p.Val520Leu
XM_011513461.1:c.1492G>C	XP_011511763.1:p.Val498Leu
XM_011513462.1:c.1411G>C	XP_011511764.1:p.Val471Leu
XM_011513463.1:c.1411G>C	XP_011511765.1:p.Val471Leu
XR_924947.1:n.1955G>C
NM_000203.5:c.1699G>C MANE Select	NP_000194.2:p.Val567Leu
NM_001363576.1:c.1303G>C	NP_001350505.1:p.Val435Leu
XM_011513461.2:c.1492G>C	XP_011511763.1:p.Val498Leu
XM_017008163.1:c.739G>C	XP_016863652.1:p.Val247Leu