Canonical Allele Identifier: CA355962873

Gene: IDUA

Linked Data

• MyVariant Identifiers: chr4:g.995945T>C (hg19) ; chr4:g.1002157T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002157T>C , CM000666.2:g.1002157T>C	GRCh38
NC_000004.11:g.995945T>C , CM000666.1:g.995945T>C	GRCh37
NC_000004.10:g.985945T>C	NCBI36
NG_008103.1:g.20161T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.968T>C	ENSP00000247933.4:p.Val323Ala
ENST00000514224.2:c.968T>C MANE Select	ENSP00000425081.2:p.Val323Ala
ENST00000652070.1:n.1024T>C
ENST00000247933.8:c.968T>C	ENSP00000247933.4:p.Val323Ala
ENST00000514224.1:c.572T>C	ENSP00000425081.1:p.Val191Ala
ENST00000514698.5:n.968T>C
NM_000203.4:c.968T>C	NP_000194.2:p.Val323Ala
NR_110313.1:n.1056T>C
XM_006713882.2:c.572T>C	XP_006713945.1:p.Val191Ala
XM_011513459.1:c.927T>C	XP_011511761.1:p.Gly309=
XM_011513460.1:c.827T>C	XP_011511762.1:p.Val276Ala
XM_011513461.1:c.761T>C	XP_011511763.1:p.Val254Ala
XM_011513462.1:c.680T>C	XP_011511764.1:p.Val227Ala
XM_011513463.1:c.680T>C	XP_011511765.1:p.Val227Ala
XR_924947.1:n.1037T>C
NM_000203.5:c.968T>C MANE Select	NP_000194.2:p.Val323Ala
NM_001363576.1:c.572T>C	NP_001350505.1:p.Val191Ala
XM_011513461.2:c.761T>C	XP_011511763.1:p.Val254Ala
XM_017008163.1:c.8T>C	XP_016863652.1:p.Val3Ala