Canonical Allele Identifier: CA7893455

Gene: ABAT

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8776407A>G , CM000678.2:g.8776407A>G	GRCh38
NC_000016.9:g.8870264A>G , CM000678.1:g.8870264A>G	GRCh37
NC_000016.8:g.8777765A>G	NCBI36
NG_008432.1:g.106821A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268251.13:c.1186A>G MANE Select	ENSP00000268251.8:p.Ile396Val
ENST00000268251.12:c.1186A>G	ENSP00000268251.8:p.Ile396Val
ENST00000396600.6:c.1186A>G	ENSP00000379845.2:p.Ile396Val
ENST00000425191.6:c.1186A>G	ENSP00000411916.2:p.Ile396Val
ENST00000566590.5:c.*926A>G	ENSP00000455198.1:n.*926A>G
ENST00000567812.5:c.1231A>G	ENSP00000456330.1:p.Ile411Val
ENST00000569156.5:c.1186A>G	ENSP00000454963.1:p.Ile396Val
NM_000663.4:c.1186A>G	NP_000654.2:p.Ile396Val
NM_001127448.1:c.1186A>G	NP_001120920.1:p.Ile396Val
NM_020686.5:c.1186A>G	NP_065737.2:p.Ile396Val
XM_011522400.1:c.1186A>G	XP_011520702.1:p.Ile396Val
XM_011522401.1:c.1186A>G	XP_011520703.1:p.Ile396Val
XM_011522400.2:c.1186A>G	XP_011520702.1:p.Ile396Val
XM_011522401.2:c.1186A>G	XP_011520703.1:p.Ile396Val
NM_020686.6:c.1186A>G MANE Select	NP_065737.2:p.Ile396Val
NM_001127448.2:c.1186A>G	NP_001120920.1:p.Ile396Val
NM_000663.5:c.1186A>G	NP_000654.2:p.Ile396Val
NM_001386600.1:c.1186A>G	NP_001373529.1:p.Ile396Val
NM_001386601.1:c.1186A>G	NP_001373530.1:p.Ile396Val
NM_001386602.1:c.1186A>G	NP_001373531.1:p.Ile396Val
NM_001386603.1:c.1186A>G	NP_001373532.1:p.Ile396Val
NM_001386604.1:c.1186A>G	NP_001373533.1:p.Ile396Val
NM_001386605.1:c.1147A>G	NP_001373534.1:p.Ile383Val
NM_001386606.1:c.1123A>G	NP_001373535.1:p.Ile375Val
NM_001386607.1:c.1123A>G	NP_001373536.1:p.Ile375Val
NM_001386608.1:c.1093A>G	NP_001373537.1:p.Ile365Val
NM_001386609.1:c.1186A>G	NP_001373538.1:p.Ile396Val
NM_001386610.1:c.1051A>G	NP_001373539.1:p.Ile351Val
NM_001386611.1:c.1051A>G	NP_001373540.1:p.Ile351Val
NM_001386612.1:c.988A>G	NP_001373541.1:p.Ile330Val
NM_001386613.1:c.988A>G	NP_001373542.1:p.Ile330Val
NM_001386614.1:c.940A>G	NP_001373543.1:p.Ile314Val
NM_001386615.1:c.1282A>G	NP_001373544.1:p.Ile428Val
NM_001386616.1:c.1186A>G	NP_001373545.1:p.Ile396Val