Canonical Allele Identifier: CA211787829

Gene: ALDH18A1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.95611342A>G , CM000672.2:g.95611342A>G	GRCh38
NC_000010.10:g.97371099A>G , CM000672.1:g.97371099A>G	GRCh37
NC_000010.9:g.97361089A>G	NCBI36
NG_012258.1:g.50469T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_002860.4:c.2024T>C MANE Select	NP_002851.2:p.Ile675Thr
ENST00000371224.7:c.2024T>C MANE Select	ENSP00000360268.2:p.Ile675Thr
NM_001017423.1:c.2018T>C	NP_001017423.1:p.Ile673Thr
NM_001017423.2:c.2018T>C	NP_001017423.1:p.Ile673Thr
NM_001323412.1:c.1691T>C	NP_001310341.1:p.Ile564Thr
NM_001323412.2:c.1691T>C	NP_001310341.1:p.Ile564Thr
NM_001323413.1:c.2024T>C	NP_001310342.1:p.Ile675Thr
NM_001323413.2:c.2024T>C	NP_001310342.1:p.Ile675Thr
NM_001323414.1:c.2024T>C	NP_001310343.1:p.Ile675Thr
NM_001323414.2:c.2024T>C	NP_001310343.1:p.Ile675Thr
NM_001323415.1:c.2018T>C	NP_001310344.1:p.Ile673Thr
NM_001323415.2:c.2018T>C	NP_001310344.1:p.Ile673Thr
NM_001323416.1:c.1691T>C	NP_001310345.1:p.Ile564Thr
NM_001323416.2:c.1691T>C	NP_001310345.1:p.Ile564Thr
NM_001323417.1:c.1919T>C	NP_001310346.1:p.Ile640Thr
NM_001323417.2:c.1919T>C	NP_001310346.1:p.Ile640Thr
NM_001323418.1:c.1685T>C	NP_001310347.1:p.Ile562Thr
NM_001323418.2:c.1685T>C	NP_001310347.1:p.Ile562Thr
NM_001323419.1:c.1388T>C	NP_001310348.1:p.Ile463Thr
NM_001323419.2:c.1388T>C	NP_001310348.1:p.Ile463Thr
NM_002860.3:c.2024T>C	NP_002851.2:p.Ile675Thr
ENST00000371221.3:c.2018T>C	ENSP00000360265.3:p.Ile673Thr
ENST00000371224.6:c.2024T>C	ENSP00000360268.2:p.Ile675Thr
ENST00000485428.1:n.640T>C
XM_006717933.1:c.2024T>C	XP_006717996.1:p.Ile675Thr
XM_011540001.1:c.1691T>C	XP_011538303.1:p.Ile564Thr
XM_024448094.1:c.2126T>C	XP_024303862.1:p.Ile709Thr
XM_024448095.1:c.2126T>C	XP_024303863.1:p.Ile709Thr
XM_024448096.1:c.2120T>C	XP_024303864.1:p.Ile707Thr
XM_024448097.1:c.1793T>C	XP_024303865.1:p.Ile598Thr