Canonical Allele Identifier: CA355963745

Gene: IDUA

Linked Data

• dbSNP Id: rs1273724499
• gnomAD v3: 4-1002810-G-C
• gnomAD v4: 4-1002810-G-C
• MyVariant Identifiers: chr4:g.996598G>C (hg19) ; chr4:g.1002810G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002810G>C , CM000666.2:g.1002810G>C	GRCh38
NC_000004.11:g.996598G>C , CM000666.1:g.996598G>C	GRCh37
NC_000004.10:g.986598G>C	NCBI36
NG_008103.1:g.20814G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1268G>C	ENSP00000247933.4:p.Ser423Thr
ENST00000514224.2:c.1268G>C MANE Select	ENSP00000425081.2:p.Ser423Thr
ENST00000652070.1:n.1324G>C
ENST00000247933.8:c.1268G>C	ENSP00000247933.4:p.Ser423Thr
ENST00000502829.1:n.70G>C
ENST00000514224.1:c.872G>C	ENSP00000425081.1:p.Ser291Thr
ENST00000514698.5:n.1375G>C
NM_000203.4:c.1268G>C	NP_000194.2:p.Ser423Thr
NR_110313.1:n.1356G>C
XM_006713882.2:c.872G>C	XP_006713945.1:p.Ser291Thr
XM_011513459.1:c.1334G>C	XP_011511761.1:p.Ser445Thr
XM_011513460.1:c.1127G>C	XP_011511762.1:p.Ser376Thr
XM_011513461.1:c.1061G>C	XP_011511763.1:p.Ser354Thr
XM_011513462.1:c.980G>C	XP_011511764.1:p.Ser327Thr
XM_011513463.1:c.980G>C	XP_011511765.1:p.Ser327Thr
XR_924947.1:n.1337G>C
NM_000203.5:c.1268G>C MANE Select	NP_000194.2:p.Ser423Thr
NM_001363576.1:c.872G>C	NP_001350505.1:p.Ser291Thr
XM_011513461.2:c.1061G>C	XP_011511763.1:p.Ser354Thr
XM_017008163.1:c.308G>C	XP_016863652.1:p.Ser103Thr