Canonical Allele Identifier: CA5620084

Gene: ALDH18A1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.95606815T>C , CM000672.2:g.95606815T>C	GRCh38
NC_000010.10:g.97366572T>C , CM000672.1:g.97366572T>C	GRCh37
NC_000010.9:g.97356562T>C	NCBI36
NG_012258.1:g.54996A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_002860.4:c.2335A>G MANE Select	NP_002851.2:p.Ser779Gly
ENST00000371224.7:c.2335A>G MANE Select	ENSP00000360268.2:p.Ser779Gly
NM_001017423.1:c.2329A>G	NP_001017423.1:p.Ser777Gly
NM_001017423.2:c.2329A>G	NP_001017423.1:p.Ser777Gly
NM_001323412.1:c.2002A>G	NP_001310341.1:p.Ser668Gly
NM_001323412.2:c.2002A>G	NP_001310341.1:p.Ser668Gly
NM_001323413.1:c.2335A>G	NP_001310342.1:p.Ser779Gly
NM_001323413.2:c.2335A>G	NP_001310342.1:p.Ser779Gly
NM_001323414.1:c.2335A>G	NP_001310343.1:p.Ser779Gly
NM_001323414.2:c.2335A>G	NP_001310343.1:p.Ser779Gly
NM_001323415.1:c.2329A>G	NP_001310344.1:p.Ser777Gly
NM_001323415.2:c.2329A>G	NP_001310344.1:p.Ser777Gly
NM_001323416.1:c.2002A>G	NP_001310345.1:p.Ser668Gly
NM_001323416.2:c.2002A>G	NP_001310345.1:p.Ser668Gly
NM_001323417.1:c.2230A>G	NP_001310346.1:p.Ser744Gly
NM_001323417.2:c.2230A>G	NP_001310346.1:p.Ser744Gly
NM_001323418.1:c.1996A>G	NP_001310347.1:p.Ser666Gly
NM_001323418.2:c.1996A>G	NP_001310347.1:p.Ser666Gly
NM_001323419.1:c.1699A>G	NP_001310348.1:p.Ser567Gly
NM_001323419.2:c.1699A>G	NP_001310348.1:p.Ser567Gly
NM_002860.3:c.2335A>G	NP_002851.2:p.Ser779Gly
ENST00000371221.3:c.2329A>G	ENSP00000360265.3:p.Ser777Gly
ENST00000371224.6:c.2335A>G	ENSP00000360268.2:p.Ser779Gly
XM_006717933.1:c.2335A>G	XP_006717996.1:p.Ser779Gly
XM_011540001.1:c.2002A>G	XP_011538303.1:p.Ser668Gly
XM_024448094.1:c.2437A>G	XP_024303862.1:p.Ser813Gly
XM_024448095.1:c.2437A>G	XP_024303863.1:p.Ser813Gly
XM_024448096.1:c.2431A>G	XP_024303864.1:p.Ser811Gly
XM_024448097.1:c.2104A>G	XP_024303865.1:p.Ser702Gly