Canonical Allele Identifier: CA10648217
Gene: ABAT HGNC NCBI
TMEM186 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.8781672G>T , CM000678.2:g.8781672G>T GRCh38
NC_000016.9:g.8875529G>T , CM000678.1:g.8875529G>T GRCh37
NC_000016.8:g.8783030G>T NCBI36
NG_008432.1:g.112086G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000268251.13:c.*242G>T (ABAT) MANE Select ENSP00000268251.8:n.*242G>T
ENST00000268251.12:c.*242G>T (ABAT) ENSP00000268251.8:n.*242G>T
ENST00000396600.6:c.*242G>T (ABAT) ENSP00000379845.2:n.*242G>T
ENST00000564869.1:n.32-228C>A (TMEM186)
NM_000663.4:c.*242G>T (ABAT) NP_000654.2:n.*242G>T
NM_001127448.1:c.*242G>T (ABAT) NP_001120920.1:n.*242G>T
NM_020686.5:c.*242G>T (ABAT) NP_065737.2:n.*242G>T
XM_011522400.1:c.*242G>T (ABAT) XP_011520702.1:n.*242G>T
XM_011522401.1:c.*242G>T (ABAT) XP_011520703.1:n.*242G>T
XM_011522400.2:c.*242G>T (ABAT) XP_011520702.1:n.*242G>T
XM_011522401.2:c.*242G>T (ABAT) XP_011520703.1:n.*242G>T
NM_020686.6:c.*242G>T (ABAT) MANE Select NP_065737.2:n.*242G>T
NM_001127448.2:c.*242G>T (ABAT) NP_001120920.1:n.*242G>T
NM_000663.5:c.*242G>T (ABAT) NP_000654.2:n.*242G>T
NM_001386600.1:c.*242G>T (ABAT) NP_001373529.1:n.*242G>T
NM_001386601.1:c.*242G>T (ABAT) NP_001373530.1:n.*242G>T
NM_001386602.1:c.*242G>T (ABAT) NP_001373531.1:n.*242G>T
NM_001386603.1:c.*242G>T (ABAT) NP_001373532.1:n.*242G>T
NM_001386604.1:c.*242G>T (ABAT) NP_001373533.1:n.*242G>T
NM_001386605.1:c.*242G>T (ABAT) NP_001373534.1:n.*242G>T
NM_001386606.1:c.*242G>T (ABAT) NP_001373535.1:n.*242G>T
NM_001386607.1:c.*242G>T (ABAT) NP_001373536.1:n.*242G>T
NM_001386608.1:c.*242G>T (ABAT) NP_001373537.1:n.*242G>T
NM_001386609.1:c.*256G>T (ABAT) NP_001373538.1:n.*256G>T
NM_001386610.1:c.*242G>T (ABAT) NP_001373539.1:n.*242G>T
NM_001386611.1:c.*242G>T (ABAT) NP_001373540.1:n.*242G>T
NM_001386612.1:c.*242G>T (ABAT) NP_001373541.1:n.*242G>T
NM_001386613.1:c.*242G>T (ABAT) NP_001373542.1:n.*242G>T
NM_001386614.1:c.*242G>T (ABAT) NP_001373543.1:n.*242G>T
NM_001386615.1:c.*242G>T (ABAT) NP_001373544.1:n.*242G>T
NM_001386616.1:c.*256G>T (ABAT) NP_001373545.1:n.*256G>T