Canonical Allele Identifier: CA2206116946
Gene: ABAT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.8777224T>G , CM000678.2:g.8777224T>G GRCh38
NC_000016.9:g.8871081T>G , CM000678.1:g.8871081T>G GRCh37
NC_000016.8:g.8778582T>G NCBI36
NG_008432.1:g.107638T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000268251.13:c.1269+734T>G MANE Select ENSP00000268251.8:n.1269+734T>G
ENST00000268251.12:c.1269+734T>G ENSP00000268251.8:n.1269+734T>G
ENST00000396600.6:c.1269+734T>G ENSP00000379845.2:n.1269+734T>G
ENST00000425191.6:c.1269+734T>G ENSP00000411916.2:n.1269+734T>G
ENST00000566590.5:c.*1009+734T>G ENSP00000455198.1:n.*1009+734T>G
ENST00000567812.5:c.1314+734T>G ENSP00000456330.1:n.1314+734T>G
ENST00000569156.5:c.1269+734T>G ENSP00000454963.1:n.1269+734T>G
NM_000663.4:c.1269+734T>G NP_000654.2:n.1269+734T>G
NM_001127448.1:c.1269+734T>G NP_001120920.1:n.1269+734T>G
NM_020686.5:c.1269+734T>G NP_065737.2:n.1269+734T>G
XM_011522400.1:c.1269+734T>G XP_011520702.1:n.1269+734T>G
XM_011522401.1:c.1269+734T>G XP_011520703.1:n.1269+734T>G
XM_011522400.2:c.1269+734T>G XP_011520702.1:n.1269+734T>G
XM_011522401.2:c.1269+734T>G XP_011520703.1:n.1269+734T>G
NM_020686.6:c.1269+734T>G MANE Select NP_065737.2:n.1269+734T>G
NM_001127448.2:c.1269+734T>G NP_001120920.1:n.1269+734T>G
NM_000663.5:c.1269+734T>G NP_000654.2:n.1269+734T>G
NM_001386600.1:c.1269+734T>G NP_001373529.1:n.1269+734T>G
NM_001386601.1:c.1269+734T>G NP_001373530.1:n.1269+734T>G
NM_001386602.1:c.1269+734T>G NP_001373531.1:n.1269+734T>G
NM_001386603.1:c.1269+734T>G NP_001373532.1:n.1269+734T>G
NM_001386604.1:c.1269+734T>G NP_001373533.1:n.1269+734T>G
NM_001386605.1:c.1230+734T>G NP_001373534.1:n.1230+734T>G
NM_001386606.1:c.1206+734T>G NP_001373535.1:n.1206+734T>G
NM_001386607.1:c.1206+734T>G NP_001373536.1:n.1206+734T>G
NM_001386608.1:c.1176+734T>G NP_001373537.1:n.1176+734T>G
NM_001386609.1:c.1269+734T>G NP_001373538.1:n.1269+734T>G
NM_001386610.1:c.1134+734T>G NP_001373539.1:n.1134+734T>G
NM_001386611.1:c.1134+734T>G NP_001373540.1:n.1134+734T>G
NM_001386612.1:c.1071+734T>G NP_001373541.1:n.1071+734T>G
NM_001386613.1:c.1071+734T>G NP_001373542.1:n.1071+734T>G
NM_001386614.1:c.1023+734T>G NP_001373543.1:n.1023+734T>G
NM_001386615.1:c.1365+734T>G NP_001373544.1:n.1365+734T>G
NM_001386616.1:c.1269+734T>G NP_001373545.1:n.1269+734T>G