Canonical Allele Identifier: CA277475959

Gene: ABAT TMEM186

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8781380G>A , CM000678.2:g.8781380G>A	GRCh38
NC_000016.9:g.8875237G>A , CM000678.1:g.8875237G>A	GRCh37
NC_000016.8:g.8782738G>A	NCBI36
NG_008432.1:g.111794G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_020686.6:c.1453G>A (ABAT) MANE Select	NP_065737.2:p.Ala485Thr
ENST00000268251.13:c.1453G>A (ABAT) MANE Select	ENSP00000268251.8:p.Ala485Thr
NM_000663.4:c.1453G>A (ABAT)	NP_000654.2:p.Ala485Thr
NM_000663.5:c.1453G>A (ABAT)	NP_000654.2:p.Ala485Thr
NM_001127448.1:c.1453G>A (ABAT)	NP_001120920.1:p.Ala485Thr
NM_001127448.2:c.1453G>A (ABAT)	NP_001120920.1:p.Ala485Thr
NM_001386600.1:c.1453G>A (ABAT)	NP_001373529.1:p.Ala485Thr
NM_001386601.1:c.1453G>A (ABAT)	NP_001373530.1:p.Ala485Thr
NM_001386602.1:c.1453G>A (ABAT)	NP_001373531.1:p.Ala485Thr
NM_001386603.1:c.1453G>A (ABAT)	NP_001373532.1:p.Ala485Thr
NM_001386604.1:c.1453G>A (ABAT)	NP_001373533.1:p.Ala485Thr
NM_001386605.1:c.1414G>A (ABAT)	NP_001373534.1:p.Ala472Thr
NM_001386606.1:c.1390G>A (ABAT)	NP_001373535.1:p.Ala464Thr
NM_001386607.1:c.1390G>A (ABAT)	NP_001373536.1:p.Ala464Thr
NM_001386608.1:c.1360G>A (ABAT)	NP_001373537.1:p.Ala454Thr
NM_001386609.1:c.1341G>A (ABAT)	NP_001373538.1:p.Thr447=
NM_001386610.1:c.1318G>A (ABAT)	NP_001373539.1:p.Ala440Thr
NM_001386611.1:c.1318G>A (ABAT)	NP_001373540.1:p.Ala440Thr
NM_001386612.1:c.1255G>A (ABAT)	NP_001373541.1:p.Ala419Thr
NM_001386613.1:c.1255G>A (ABAT)	NP_001373542.1:p.Ala419Thr
NM_001386614.1:c.1207G>A (ABAT)	NP_001373543.1:p.Ala403Thr
NM_001386615.1:c.1549G>A (ABAT)	NP_001373544.1:p.Ala517Thr
NM_001386616.1:c.1512G>A (ABAT)	NP_001373545.1:p.Thr504=
NM_020686.5:c.1453G>A (ABAT)	NP_065737.2:p.Ala485Thr
ENST00000268251.12:c.1453G>A (ABAT)	ENSP00000268251.8:p.Ala485Thr
ENST00000396600.6:c.1453G>A (ABAT)	ENSP00000379845.2:p.Ala485Thr
ENST00000425191.6:c.1453G>A (ABAT)	ENSP00000411916.2:p.Ala485Thr
ENST00000564869.1:n.96C>T (TMEM186)
ENST00000566590.5:c.*1193G>A (ABAT)	ENSP00000455198.1:n.*1193G>A
ENST00000567812.5:c.1498G>A (ABAT)	ENSP00000456330.1:p.Ala500Thr
ENST00000569156.5:c.1512G>A (ABAT)	ENSP00000454963.1:p.Thr504=
XM_011522400.1:c.1453G>A (ABAT)	XP_011520702.1:p.Ala485Thr
XM_011522400.2:c.1453G>A (ABAT)	XP_011520702.1:p.Ala485Thr
XM_011522401.1:c.1453G>A (ABAT)	XP_011520703.1:p.Ala485Thr
XM_011522401.2:c.1453G>A (ABAT)	XP_011520703.1:p.Ala485Thr