Canonical Allele Identifier: CA2206113590

Gene: ABAT

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8768220C= , CM000678.2:g.8768220C=	GRCh38
NC_000016.9:g.8862077C= , CM000678.1:g.8862077C=	GRCh37
NC_000016.8:g.8769578C=	NCBI36
NG_008432.1:g.98634C=

Transcript Alleles

HGVS	Amino-acid Change
NM_020686.6:c.631C= MANE Select	NP_065737.2:p.Leu211=
ENST00000268251.13:c.631C= MANE Select	ENSP00000268251.8:p.Leu211=
NM_000663.4:c.631C=	NP_000654.2:p.Leu211=
NM_000663.5:c.631C=	NP_000654.2:p.Leu211=
NM_001127448.1:c.631C=	NP_001120920.1:p.Leu211=
NM_001127448.2:c.631C=	NP_001120920.1:p.Leu211=
NM_001386600.1:c.631C=	NP_001373529.1:p.Leu211=
NM_001386601.1:c.631C=	NP_001373530.1:p.Leu211=
NM_001386602.1:c.631C=	NP_001373531.1:p.Leu211=
NM_001386603.1:c.631C=	NP_001373532.1:p.Leu211=
NM_001386604.1:c.631C=	NP_001373533.1:p.Leu211=
NM_001386605.1:c.631C=	NP_001373534.1:p.Leu211=
NM_001386606.1:c.568C=	NP_001373535.1:p.Leu190=
NM_001386607.1:c.568C=	NP_001373536.1:p.Leu190=
NM_001386608.1:c.538C=	NP_001373537.1:p.Leu180=
NM_001386609.1:c.631C=	NP_001373538.1:p.Leu211=
NM_001386610.1:c.496C=	NP_001373539.1:p.Leu166=
NM_001386611.1:c.496C=	NP_001373540.1:p.Leu166=
NM_001386612.1:c.433C=	NP_001373541.1:p.Leu145=
NM_001386613.1:c.433C=	NP_001373542.1:p.Leu145=
NM_001386614.1:c.385C=	NP_001373543.1:p.Leu129=
NM_001386615.1:c.727C=	NP_001373544.1:p.Leu243=
NM_001386616.1:c.631C=	NP_001373545.1:p.Leu211=
NM_020686.5:c.631C=	NP_065737.2:p.Leu211=
ENST00000268251.12:c.631C=	ENSP00000268251.8:p.Leu211=
ENST00000396600.6:c.631C=	ENSP00000379845.2:p.Leu211=
ENST00000425191.6:c.631C=	ENSP00000411916.2:p.Leu211=
ENST00000564453.1:n.514C=
ENST00000566590.5:c.*371C=	ENSP00000455198.1:n.*371C=
ENST00000567812.5:c.676C=	ENSP00000456330.1:p.Leu226=
ENST00000569156.5:c.631C=	ENSP00000454963.1:p.Leu211=
XM_011522400.1:c.631C=	XP_011520702.1:p.Leu211=
XM_011522400.2:c.631C=	XP_011520702.1:p.Leu211=
XM_011522401.1:c.631C=	XP_011520703.1:p.Leu211=
XM_011522401.2:c.631C=	XP_011520703.1:p.Leu211=