Canonical Allele Identifier: CA5620367

Gene: ALDH18A1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.95621245A>T , CM000672.2:g.95621245A>T	GRCh38
NC_000010.10:g.97381002A>T , CM000672.1:g.97381002A>T	GRCh37
NC_000010.9:g.97370992A>T	NCBI36
NG_012258.1:g.40566T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_002860.4:c.1253T>A MANE Select	NP_002851.2:p.Leu418His
ENST00000371224.7:c.1253T>A MANE Select	ENSP00000360268.2:p.Leu418His
NM_001017423.1:c.1247T>A	NP_001017423.1:p.Leu416His
NM_001017423.2:c.1247T>A	NP_001017423.1:p.Leu416His
NM_001323412.1:c.920T>A	NP_001310341.1:p.Leu307His
NM_001323412.2:c.920T>A	NP_001310341.1:p.Leu307His
NM_001323413.1:c.1253T>A	NP_001310342.1:p.Leu418His
NM_001323413.2:c.1253T>A	NP_001310342.1:p.Leu418His
NM_001323414.1:c.1253T>A	NP_001310343.1:p.Leu418His
NM_001323414.2:c.1253T>A	NP_001310343.1:p.Leu418His
NM_001323415.1:c.1247T>A	NP_001310344.1:p.Leu416His
NM_001323415.2:c.1247T>A	NP_001310344.1:p.Leu416His
NM_001323416.1:c.920T>A	NP_001310345.1:p.Leu307His
NM_001323416.2:c.920T>A	NP_001310345.1:p.Leu307His
NM_001323417.1:c.1148T>A	NP_001310346.1:p.Leu383His
NM_001323417.2:c.1148T>A	NP_001310346.1:p.Leu383His
NM_001323418.1:c.914T>A	NP_001310347.1:p.Leu305His
NM_001323418.2:c.914T>A	NP_001310347.1:p.Leu305His
NM_001323419.1:c.617T>A	NP_001310348.1:p.Leu206His
NM_001323419.2:c.617T>A	NP_001310348.1:p.Leu206His
NM_002860.3:c.1253T>A	NP_002851.2:p.Leu418His
ENST00000371221.3:c.1247T>A	ENSP00000360265.3:p.Leu416His
ENST00000371224.6:c.1253T>A	ENSP00000360268.2:p.Leu418His
XM_006717933.1:c.1253T>A	XP_006717996.1:p.Leu418His
XM_011540001.1:c.920T>A	XP_011538303.1:p.Leu307His
XM_024448094.1:c.1253T>A	XP_024303862.1:p.Leu418His
XM_024448095.1:c.1253T>A	XP_024303863.1:p.Leu418His
XM_024448096.1:c.1247T>A	XP_024303864.1:p.Leu416His
XM_024448097.1:c.920T>A	XP_024303865.1:p.Leu307His