Canonical Allele Identifier: CA10648190
Gene: ABAT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.8674646G>A , CM000678.2:g.8674646G>A GRCh38
NC_000016.9:g.8768503G>A , CM000678.1:g.8768503G>A GRCh37
NC_000016.8:g.8676004G>A NCBI36
NG_008432.1:g.5060G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000268251.13:c.-107G>A MANE Select ENSP00000268251.8:n.-107G>A
ENST00000268251.12:c.-107G>A ENSP00000268251.8:n.-107G>A
ENST00000563992.1:n.30G>A
ENST00000564714.5:c.-129G>A ENSP00000456392.1:n.-129G>A
NM_020686.5:c.-107G>A NP_065737.2:n.-107G>A
NM_020686.6:c.-107G>A MANE Select NP_065737.2:n.-107G>A
NM_001386602.1:c.-208G>A NP_001373531.1:n.-208G>A
NM_001386605.1:c.-107G>A NP_001373534.1:n.-107G>A
NM_001386607.1:c.-107G>A NP_001373536.1:n.-107G>A
NM_001386608.1:c.-107G>A NP_001373537.1:n.-107G>A
NM_001386609.1:c.-107G>A NP_001373538.1:n.-107G>A
NM_001386610.1:c.-107G>A NP_001373539.1:n.-107G>A
NM_001386611.1:c.-131G>A NP_001373540.1:n.-131G>A
NM_001386612.1:c.-131G>A NP_001373541.1:n.-131G>A
NM_001386614.1:c.-107G>A NP_001373543.1:n.-107G>A
NM_001386615.1:c.-107G>A NP_001373544.1:n.-107G>A