Canonical Allele Identifier: CA2206101771
Community Standard Title: NM_020686.6(ABAT):c.275G= (p.Arg92=)
Gene: ABAT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.8750498G= , CM000678.2:g.8750498G= GRCh38
NC_000016.9:g.8844355G= , CM000678.1:g.8844355G= GRCh37
NC_000016.8:g.8751856G= NCBI36
NG_008432.1:g.80912G=

Transcript Alleles

HGVS Amino-acid Change
NM_020686.6:c.275G= MANE Select NP_065737.2:p.Arg92=
ENST00000268251.13:c.275G= MANE Select ENSP00000268251.8:p.Arg92=
NM_000663.4:c.275G= NP_000654.2:p.Arg92=
NM_000663.5:c.275G= NP_000654.2:p.Arg92=
NM_001127448.1:c.275G= NP_001120920.1:p.Arg92=
NM_001127448.2:c.275G= NP_001120920.1:p.Arg92=
NM_001386600.1:c.275G= NP_001373529.1:p.Arg92=
NM_001386601.1:c.275G= NP_001373530.1:p.Arg92=
NM_001386602.1:c.275G= NP_001373531.1:p.Arg92=
NM_001386603.1:c.275G= NP_001373532.1:p.Arg92=
NM_001386604.1:c.275G= NP_001373533.1:p.Arg92=
NM_001386605.1:c.275G= NP_001373534.1:p.Arg92=
NM_001386606.1:c.275G= NP_001373535.1:p.Arg92=
NM_001386607.1:c.275G= NP_001373536.1:p.Arg92=
NM_001386608.1:c.275G= NP_001373537.1:p.Arg92=
NM_001386609.1:c.275G= NP_001373538.1:p.Arg92=
NM_001386610.1:c.140G= NP_001373539.1:p.Arg47=
NM_001386611.1:c.140G= NP_001373540.1:p.Arg47=
NM_001386612.1:c.140G= NP_001373541.1:p.Arg47=
NM_001386613.1:c.140G= NP_001373542.1:p.Arg47=
NM_001386614.1:c.71-7259G= NP_001373543.1:n.71-7259G=
NM_001386615.1:c.275G= NP_001373544.1:p.Arg92=
NM_001386616.1:c.275G= NP_001373545.1:p.Arg92=
NM_020686.5:c.275G= NP_065737.2:p.Arg92=
ENST00000268251.12:c.275G= ENSP00000268251.8:p.Arg92=
ENST00000396600.6:c.275G= ENSP00000379845.2:p.Arg92=
ENST00000425191.6:c.275G= ENSP00000411916.2:p.Arg92=
ENST00000562115.1:c.275G= ENSP00000455502.1:p.Arg92=
ENST00000565671.1:n.204G=
ENST00000566590.5:c.*15G= ENSP00000455198.1:n.*15G=
ENST00000567812.5:c.320G= ENSP00000456330.1:p.Arg107=
ENST00000569156.5:c.275G= ENSP00000454963.1:p.Arg92=
XM_011522400.1:c.275G= XP_011520702.1:p.Arg92=
XM_011522400.2:c.275G= XP_011520702.1:p.Arg92=
XM_011522401.1:c.275G= XP_011520703.1:p.Arg92=
XM_011522401.2:c.275G= XP_011520703.1:p.Arg92=