Canonical Allele Identifier: CA394688732
Community Standard Title: NM_020686.6(ABAT):c.616C>T (p.Pro206Ser)
Gene: ABAT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.8768205C>T , CM000678.2:g.8768205C>T GRCh38
NC_000016.9:g.8862062C>T , CM000678.1:g.8862062C>T GRCh37
NC_000016.8:g.8769563C>T NCBI36
NG_008432.1:g.98619C>T

Transcript Alleles

HGVS Amino-acid Change
NM_020686.6:c.616C>T MANE Select NP_065737.2:p.Pro206Ser
ENST00000268251.13:c.616C>T MANE Select ENSP00000268251.8:p.Pro206Ser
NM_000663.4:c.616C>T NP_000654.2:p.Pro206Ser
NM_000663.5:c.616C>T NP_000654.2:p.Pro206Ser
NM_001127448.1:c.616C>T NP_001120920.1:p.Pro206Ser
NM_001127448.2:c.616C>T NP_001120920.1:p.Pro206Ser
NM_001386600.1:c.616C>T NP_001373529.1:p.Pro206Ser
NM_001386601.1:c.616C>T NP_001373530.1:p.Pro206Ser
NM_001386602.1:c.616C>T NP_001373531.1:p.Pro206Ser
NM_001386603.1:c.616C>T NP_001373532.1:p.Pro206Ser
NM_001386604.1:c.616C>T NP_001373533.1:p.Pro206Ser
NM_001386605.1:c.616C>T NP_001373534.1:p.Pro206Ser
NM_001386606.1:c.553C>T NP_001373535.1:p.Pro185Ser
NM_001386607.1:c.553C>T NP_001373536.1:p.Pro185Ser
NM_001386608.1:c.523C>T NP_001373537.1:p.Pro175Ser
NM_001386609.1:c.616C>T NP_001373538.1:p.Pro206Ser
NM_001386610.1:c.481C>T NP_001373539.1:p.Pro161Ser
NM_001386611.1:c.481C>T NP_001373540.1:p.Pro161Ser
NM_001386612.1:c.418C>T NP_001373541.1:p.Pro140Ser
NM_001386613.1:c.418C>T NP_001373542.1:p.Pro140Ser
NM_001386614.1:c.370C>T NP_001373543.1:p.Pro124Ser
NM_001386615.1:c.712C>T NP_001373544.1:p.Pro238Ser
NM_001386616.1:c.616C>T NP_001373545.1:p.Pro206Ser
NM_020686.5:c.616C>T NP_065737.2:p.Pro206Ser
ENST00000268251.12:c.616C>T ENSP00000268251.8:p.Pro206Ser
ENST00000396600.6:c.616C>T ENSP00000379845.2:p.Pro206Ser
ENST00000425191.6:c.616C>T ENSP00000411916.2:p.Pro206Ser
ENST00000564453.1:n.499C>T
ENST00000566590.5:c.*356C>T ENSP00000455198.1:n.*356C>T
ENST00000567812.5:c.661C>T ENSP00000456330.1:p.Pro221Ser
ENST00000569156.5:c.616C>T ENSP00000454963.1:p.Pro206Ser
XM_011522400.1:c.616C>T XP_011520702.1:p.Pro206Ser
XM_011522400.2:c.616C>T XP_011520702.1:p.Pro206Ser
XM_011522401.1:c.616C>T XP_011520703.1:p.Pro206Ser
XM_011522401.2:c.616C>T XP_011520703.1:p.Pro206Ser