Canonical Allele Identifier: CA355962613

Gene: IDUA

Linked Data

• dbSNP Id: rs1337488045
• gnomAD v2: 4-995896-T-C
• gnomAD v4: 4-1002108-T-C
• MyVariant Identifiers: chr4:g.995896T>C (hg19) ; chr4:g.1002108T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002108T>C , CM000666.2:g.1002108T>C	GRCh38
NC_000004.11:g.995896T>C , CM000666.1:g.995896T>C	GRCh37
NC_000004.10:g.985896T>C	NCBI36
NG_008103.1:g.20112T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.919T>C	ENSP00000247933.4:p.Ser307Pro
ENST00000514224.2:c.919T>C MANE Select	ENSP00000425081.2:p.Ser307Pro
ENST00000652070.1:n.975T>C
ENST00000247933.8:c.919T>C	ENSP00000247933.4:p.Ser307Pro
ENST00000514224.1:c.523T>C	ENSP00000425081.1:p.Ser175Pro
ENST00000514698.5:n.919T>C
NM_000203.4:c.919T>C	NP_000194.2:p.Ser307Pro
NR_110313.1:n.1007T>C
XM_006713882.2:c.523T>C	XP_006713945.1:p.Ser175Pro
XM_011513459.1:c.878T>C	XP_011511761.1:p.Val293Ala
XM_011513460.1:c.778T>C	XP_011511762.1:p.Ser260Pro
XM_011513461.1:c.712T>C	XP_011511763.1:p.Ser238Pro
XM_011513462.1:c.631T>C	XP_011511764.1:p.Ser211Pro
XM_011513463.1:c.631T>C	XP_011511765.1:p.Ser211Pro
XR_924947.1:n.988T>C
NM_000203.5:c.919T>C MANE Select	NP_000194.2:p.Ser307Pro
NM_001363576.1:c.523T>C	NP_001350505.1:p.Ser175Pro
XM_011513461.2:c.712T>C	XP_011511763.1:p.Ser238Pro
XM_017008163.1:c.-42T>C	XP_016863652.1:n.-42T>C