Canonical Allele Identifier: CA277476717
Gene: ABAT HGNC NCBI
TMEM186 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.8782505C>T , CM000678.2:g.8782505C>T GRCh38
NC_000016.9:g.8876362C>T , CM000678.1:g.8876362C>T GRCh37
NC_000016.8:g.8783863C>T NCBI36
NG_008432.1:g.112919C>T

Transcript Alleles

HGVS Amino-acid Change
NM_020686.6:c.*1075C>T (ABAT) MANE Select NP_065737.2:n.*1075C>T
ENST00000268251.13:c.*1075C>T (ABAT) MANE Select ENSP00000268251.8:n.*1075C>T
NM_000663.4:c.*1075C>T (ABAT) NP_000654.2:n.*1075C>T
NM_000663.5:c.*1075C>T (ABAT) NP_000654.2:n.*1075C>T
NM_001127448.1:c.*1075C>T (ABAT) NP_001120920.1:n.*1075C>T
NM_001127448.2:c.*1075C>T (ABAT) NP_001120920.1:n.*1075C>T
NM_001386600.1:c.*1075C>T (ABAT) NP_001373529.1:n.*1075C>T
NM_001386601.1:c.*1075C>T (ABAT) NP_001373530.1:n.*1075C>T
NM_001386602.1:c.*1075C>T (ABAT) NP_001373531.1:n.*1075C>T
NM_001386603.1:c.*1075C>T (ABAT) NP_001373532.1:n.*1075C>T
NM_001386604.1:c.*1075C>T (ABAT) NP_001373533.1:n.*1075C>T
NM_001386605.1:c.*1075C>T (ABAT) NP_001373534.1:n.*1075C>T
NM_001386606.1:c.*1075C>T (ABAT) NP_001373535.1:n.*1075C>T
NM_001386607.1:c.*1075C>T (ABAT) NP_001373536.1:n.*1075C>T
NM_001386608.1:c.*1075C>T (ABAT) NP_001373537.1:n.*1075C>T
NM_001386609.1:c.*1089C>T (ABAT) NP_001373538.1:n.*1089C>T
NM_001386610.1:c.*1075C>T (ABAT) NP_001373539.1:n.*1075C>T
NM_001386611.1:c.*1075C>T (ABAT) NP_001373540.1:n.*1075C>T
NM_001386612.1:c.*1075C>T (ABAT) NP_001373541.1:n.*1075C>T
NM_001386613.1:c.*1075C>T (ABAT) NP_001373542.1:n.*1075C>T
NM_001386614.1:c.*1075C>T (ABAT) NP_001373543.1:n.*1075C>T
NM_001386615.1:c.*1075C>T (ABAT) NP_001373544.1:n.*1075C>T
NM_001386616.1:c.*1089C>T (ABAT) NP_001373545.1:n.*1089C>T
NM_020686.5:c.*1075C>T (ABAT) NP_065737.2:n.*1075C>T
ENST00000268251.12:c.*1075C>T (ABAT) ENSP00000268251.8:n.*1075C>T
ENST00000396600.6:c.*1075C>T (ABAT) ENSP00000379845.2:n.*1075C>T
ENST00000564869.1:n.32-1061G>A (TMEM186)
XM_011522400.1:c.*1075C>T (ABAT) XP_011520702.1:n.*1075C>T
XM_011522400.2:c.*1075C>T (ABAT) XP_011520702.1:n.*1075C>T
XM_011522401.1:c.*1075C>T (ABAT) XP_011520703.1:n.*1075C>T
XM_011522401.2:c.*1075C>T (ABAT) XP_011520703.1:n.*1075C>T