Canonical Allele Identifier: CA355962726

Gene: IDUA

Linked Data

• dbSNP Id: rs1715123919
• MyVariant Identifiers: chr4:g.995917G>T (hg19) ; chr4:g.1002129G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002129G>T , CM000666.2:g.1002129G>T	GRCh38
NC_000004.11:g.995917G>T , CM000666.1:g.995917G>T	GRCh37
NC_000004.10:g.985917G>T	NCBI36
NG_008103.1:g.20133G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.940G>T	ENSP00000247933.4:p.Ala314Ser
ENST00000514224.2:c.940G>T MANE Select	ENSP00000425081.2:p.Ala314Ser
ENST00000652070.1:n.996G>T
ENST00000247933.8:c.940G>T	ENSP00000247933.4:p.Ala314Ser
ENST00000514224.1:c.544G>T	ENSP00000425081.1:p.Ala182Ser
ENST00000514698.5:n.940G>T
NM_000203.4:c.940G>T	NP_000194.2:p.Ala314Ser
NR_110313.1:n.1028G>T
XM_006713882.2:c.544G>T	XP_006713945.1:p.Ala182Ser
XM_011513459.1:c.899G>T	XP_011511761.1:p.Gly300Val
XM_011513460.1:c.799G>T	XP_011511762.1:p.Ala267Ser
XM_011513461.1:c.733G>T	XP_011511763.1:p.Ala245Ser
XM_011513462.1:c.652G>T	XP_011511764.1:p.Ala218Ser
XM_011513463.1:c.652G>T	XP_011511765.1:p.Ala218Ser
XR_924947.1:n.1009G>T
NM_000203.5:c.940G>T MANE Select	NP_000194.2:p.Ala314Ser
NM_001363576.1:c.544G>T	NP_001350505.1:p.Ala182Ser
XM_011513461.2:c.733G>T	XP_011511763.1:p.Ala245Ser
XM_017008163.1:c.-21G>T	XP_016863652.1:n.-21G>T