Canonical Allele Identifier: CA5620096

Gene: ALDH18A1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.95606904C>T , CM000672.2:g.95606904C>T	GRCh38
NC_000010.10:g.97366661C>T , CM000672.1:g.97366661C>T	GRCh37
NC_000010.9:g.97356651C>T	NCBI36
NG_012258.1:g.54907G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_002860.4:c.2246G>A MANE Select	NP_002851.2:p.Arg749Gln
ENST00000371224.7:c.2246G>A MANE Select	ENSP00000360268.2:p.Arg749Gln
NM_001017423.1:c.2240G>A	NP_001017423.1:p.Arg747Gln
NM_001017423.2:c.2240G>A	NP_001017423.1:p.Arg747Gln
NM_001323412.1:c.1913G>A	NP_001310341.1:p.Arg638Gln
NM_001323412.2:c.1913G>A	NP_001310341.1:p.Arg638Gln
NM_001323413.1:c.2246G>A	NP_001310342.1:p.Arg749Gln
NM_001323413.2:c.2246G>A	NP_001310342.1:p.Arg749Gln
NM_001323414.1:c.2246G>A	NP_001310343.1:p.Arg749Gln
NM_001323414.2:c.2246G>A	NP_001310343.1:p.Arg749Gln
NM_001323415.1:c.2240G>A	NP_001310344.1:p.Arg747Gln
NM_001323415.2:c.2240G>A	NP_001310344.1:p.Arg747Gln
NM_001323416.1:c.1913G>A	NP_001310345.1:p.Arg638Gln
NM_001323416.2:c.1913G>A	NP_001310345.1:p.Arg638Gln
NM_001323417.1:c.2141G>A	NP_001310346.1:p.Arg714Gln
NM_001323417.2:c.2141G>A	NP_001310346.1:p.Arg714Gln
NM_001323418.1:c.1907G>A	NP_001310347.1:p.Arg636Gln
NM_001323418.2:c.1907G>A	NP_001310347.1:p.Arg636Gln
NM_001323419.1:c.1610G>A	NP_001310348.1:p.Arg537Gln
NM_001323419.2:c.1610G>A	NP_001310348.1:p.Arg537Gln
NM_002860.3:c.2246G>A	NP_002851.2:p.Arg749Gln
ENST00000371221.3:c.2240G>A	ENSP00000360265.3:p.Arg747Gln
ENST00000371224.6:c.2246G>A	ENSP00000360268.2:p.Arg749Gln
XM_006717933.1:c.2246G>A	XP_006717996.1:p.Arg749Gln
XM_011540001.1:c.1913G>A	XP_011538303.1:p.Arg638Gln
XM_024448094.1:c.2348G>A	XP_024303862.1:p.Arg783Gln
XM_024448095.1:c.2348G>A	XP_024303863.1:p.Arg783Gln
XM_024448096.1:c.2342G>A	XP_024303864.1:p.Arg781Gln
XM_024448097.1:c.2015G>A	XP_024303865.1:p.Arg672Gln