Canonical Allele Identifier: CA2084947297

Gene: ALG5

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.36965371C>T , CM000675.2:g.36965371C>T	GRCh38
NC_000013.10:g.37539508C>T , CM000675.1:g.37539508C>T	GRCh37
NC_000013.9:g.36437508C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_013338.5:c.773+204G>A MANE Select	NP_037470.1:n.773+204G>A
ENST00000239891.4:c.773+204G>A MANE Select	ENSP00000239891.3:n.773+204G>A
NM_001142364.1:c.683+204G>A	NP_001135836.1:n.683+204G>A
NM_013338.4:c.773+204G>A	NP_037470.1:n.773+204G>A
ENST00000239891.3:c.773+204G>A	ENSP00000239891.3:n.773+204G>A
ENST00000443765.5:c.683+204G>A	ENSP00000390533.1:n.683+204G>A
ENST00000443765.6:c.683+204G>A	ENSP00000390533.1:n.683+204G>A
ENST00000460230.1:n.537+204G>A
ENST00000496689.2:n.990+204G>A
ENST00000679572.1:c.773+204G>A	ENSP00000505481.1:n.773+204G>A
ENST00000679673.1:c.554+204G>A	ENSP00000505408.1:n.554+204G>A
ENST00000679760.1:n.1350+204G>A
ENST00000679837.1:c.659+204G>A	ENSP00000505491.1:n.659+204G>A
ENST00000680012.1:c.507+6606G>A	ENSP00000504993.1:n.507+6606G>A
ENST00000680127.1:n.1203G>A
ENST00000680488.1:c.621+6606G>A	ENSP00000505795.1:n.621+6606G>A
ENST00000680671.1:c.713+204G>A	ENSP00000506352.1:n.713+204G>A
ENST00000680795.1:c.*629+204G>A	ENSP00000506082.1:n.*629+204G>A
ENST00000680949.1:c.*216+204G>A	ENSP00000506156.1:n.*216+204G>A
ENST00000681016.1:c.674+204G>A	ENSP00000505412.1:n.674+204G>A
ENST00000681043.1:c.*486+204G>A	ENSP00000504940.1:n.*486+204G>A
ENST00000681110.1:n.2681G>A
ENST00000681151.1:n.2483+204G>A
ENST00000681208.1:c.562-12772G>A	ENSP00000504947.1:n.562-12772G>A
ENST00000681214.1:c.860+204G>A	ENSP00000506093.1:n.860+204G>A
ENST00000681553.1:n.1174+204G>A
ENST00000681581.1:c.*216+204G>A	ENSP00000506204.1:n.*216+204G>A
ENST00000681763.1:c.773+204G>A	ENSP00000506186.1:n.773+204G>A
ENST00000681893.1:c.674+204G>A	ENSP00000506235.1:n.674+204G>A
XM_005266362.3:c.659+204G>A	XP_005266419.1:n.659+204G>A
XM_017020552.1:c.584+204G>A	XP_016876041.1:n.584+204G>A
XR_001749540.2:n.970+204G>A