Canonical Allele Identifier: CA5620171

Gene: ALDH18A1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.95611373G>A , CM000672.2:g.95611373G>A	GRCh38
NC_000010.10:g.97371130G>A , CM000672.1:g.97371130G>A	GRCh37
NC_000010.9:g.97361120G>A	NCBI36
NG_012258.1:g.50438C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_002860.4:c.1993C>T MANE Select	NP_002851.2:p.Arg665Ter
ENST00000371224.7:c.1993C>T MANE Select	ENSP00000360268.2:p.Arg665Ter
NM_001017423.1:c.1987C>T	NP_001017423.1:p.Arg663Ter
NM_001017423.2:c.1987C>T	NP_001017423.1:p.Arg663Ter
NM_001323412.1:c.1660C>T	NP_001310341.1:p.Arg554Ter
NM_001323412.2:c.1660C>T	NP_001310341.1:p.Arg554Ter
NM_001323413.1:c.1993C>T	NP_001310342.1:p.Arg665Ter
NM_001323413.2:c.1993C>T	NP_001310342.1:p.Arg665Ter
NM_001323414.1:c.1993C>T	NP_001310343.1:p.Arg665Ter
NM_001323414.2:c.1993C>T	NP_001310343.1:p.Arg665Ter
NM_001323415.1:c.1987C>T	NP_001310344.1:p.Arg663Ter
NM_001323415.2:c.1987C>T	NP_001310344.1:p.Arg663Ter
NM_001323416.1:c.1660C>T	NP_001310345.1:p.Arg554Ter
NM_001323416.2:c.1660C>T	NP_001310345.1:p.Arg554Ter
NM_001323417.1:c.1888C>T	NP_001310346.1:p.Arg630Ter
NM_001323417.2:c.1888C>T	NP_001310346.1:p.Arg630Ter
NM_001323418.1:c.1654C>T	NP_001310347.1:p.Arg552Ter
NM_001323418.2:c.1654C>T	NP_001310347.1:p.Arg552Ter
NM_001323419.1:c.1357C>T	NP_001310348.1:p.Arg453Ter
NM_001323419.2:c.1357C>T	NP_001310348.1:p.Arg453Ter
NM_002860.3:c.1993C>T	NP_002851.2:p.Arg665Ter
ENST00000371221.3:c.1987C>T	ENSP00000360265.3:p.Arg663Ter
ENST00000371224.6:c.1993C>T	ENSP00000360268.2:p.Arg665Ter
ENST00000485428.1:n.609C>T
XM_006717933.1:c.1993C>T	XP_006717996.1:p.Arg665Ter
XM_011540001.1:c.1660C>T	XP_011538303.1:p.Arg554Ter
XM_024448094.1:c.2095C>T	XP_024303862.1:p.Arg699Ter
XM_024448095.1:c.2095C>T	XP_024303863.1:p.Arg699Ter
XM_024448096.1:c.2089C>T	XP_024303864.1:p.Arg697Ter
XM_024448097.1:c.1762C>T	XP_024303865.1:p.Arg588Ter