Canonical Allele Identifier: CA355962723

Gene: IDUA

Linked Data

• MyVariant Identifiers: chr4:g.995917G>C (hg19) ; chr4:g.1002129G>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.940G>C	ENSP00000247933.4:p.Ala314Pro
ENST00000514224.2:c.940G>C MANE Select	ENSP00000425081.2:p.Ala314Pro
ENST00000652070.1:n.996G>C
ENST00000247933.8:c.940G>C	ENSP00000247933.4:p.Ala314Pro
ENST00000514224.1:c.544G>C	ENSP00000425081.1:p.Ala182Pro
ENST00000514698.5:n.940G>C
NM_000203.4:c.940G>C	NP_000194.2:p.Ala314Pro
NR_110313.1:n.1028G>C
XM_006713882.2:c.544G>C	XP_006713945.1:p.Ala182Pro
XM_011513459.1:c.899G>C	XP_011511761.1:p.Gly300Ala
XM_011513460.1:c.799G>C	XP_011511762.1:p.Ala267Pro
XM_011513461.1:c.733G>C	XP_011511763.1:p.Ala245Pro
XM_011513462.1:c.652G>C	XP_011511764.1:p.Ala218Pro
XM_011513463.1:c.652G>C	XP_011511765.1:p.Ala218Pro
XR_924947.1:n.1009G>C
NM_000203.5:c.940G>C MANE Select	NP_000194.2:p.Ala314Pro
NM_001363576.1:c.544G>C	NP_001350505.1:p.Ala182Pro
XM_011513461.2:c.733G>C	XP_011511763.1:p.Ala245Pro
XM_017008163.1:c.-21G>C	XP_016863652.1:n.-21G>C