Canonical Allele Identifier: CA355962313

Gene: IDUA

Linked Data

• dbSNP Id: rs1218414549
• gnomAD v2: 4-995782-T-C
• gnomAD v4: 4-1001994-T-C
• MyVariant Identifiers: chr4:g.995782T>C (hg19) ; chr4:g.1001994T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1001994T>C , CM000666.2:g.1001994T>C	GRCh38
NC_000004.11:g.995782T>C , CM000666.1:g.995782T>C	GRCh37
NC_000004.10:g.985782T>C	NCBI36
NG_008103.1:g.19998T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.805T>C	ENSP00000247933.4:p.Ser269Pro
ENST00000514224.2:c.805T>C MANE Select	ENSP00000425081.2:p.Ser269Pro
ENST00000652070.1:n.861T>C
ENST00000247933.8:c.805T>C	ENSP00000247933.4:p.Ser269Pro
ENST00000502910.5:c.664T>C	ENSP00000422952.1:p.Ser222Pro
ENST00000514192.5:c.622T>C	ENSP00000423685.1:p.Ser208Pro
ENST00000514224.1:c.409T>C	ENSP00000425081.1:p.Ser137Pro
ENST00000514698.5:n.805T>C
NM_000203.4:c.805T>C	NP_000194.2:p.Ser269Pro
NR_110313.1:n.893T>C
XM_006713882.2:c.409T>C	XP_006713945.1:p.Ser137Pro
XM_011513459.1:c.764T>C	XP_011511761.1:p.Leu255Pro
XM_011513460.1:c.664T>C	XP_011511762.1:p.Ser222Pro
XM_011513461.1:c.598T>C	XP_011511763.1:p.Ser200Pro
XM_011513462.1:c.517T>C	XP_011511764.1:p.Ser173Pro
XM_011513463.1:c.517T>C	XP_011511765.1:p.Ser173Pro
XR_924947.1:n.874T>C
NM_000203.5:c.805T>C MANE Select	NP_000194.2:p.Ser269Pro
NM_001363576.1:c.409T>C	NP_001350505.1:p.Ser137Pro
XM_011513461.2:c.598T>C	XP_011511763.1:p.Ser200Pro
XM_017008163.1:c.-156T>C	XP_016863652.1:n.-156T>C