Canonical Allele Identifier: CA394689816

Gene: ABAT

Linked Data

• MyVariant Identifiers: chr16:g.8868783G>C (hg19) ; chr16:g.8774926G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8774926G>C , CM000678.2:g.8774926G>C	GRCh38
NC_000016.9:g.8868783G>C , CM000678.1:g.8868783G>C	GRCh37
NC_000016.8:g.8776284G>C	NCBI36
NG_008432.1:g.105340G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268251.13:c.991G>C MANE Select	ENSP00000268251.8:p.Gly331Arg
ENST00000268251.12:c.991G>C	ENSP00000268251.8:p.Gly331Arg
ENST00000396600.6:c.991G>C	ENSP00000379845.2:p.Gly331Arg
ENST00000425191.6:c.991G>C	ENSP00000411916.2:p.Gly331Arg
ENST00000566590.5:c.*731G>C	ENSP00000455198.1:n.*731G>C
ENST00000567812.5:c.1036G>C	ENSP00000456330.1:p.Gly346Arg
ENST00000569156.5:c.991G>C	ENSP00000454963.1:p.Gly331Arg
NM_000663.4:c.991G>C	NP_000654.2:p.Gly331Arg
NM_001127448.1:c.991G>C	NP_001120920.1:p.Gly331Arg
NM_020686.5:c.991G>C	NP_065737.2:p.Gly331Arg
XM_011522400.1:c.991G>C	XP_011520702.1:p.Gly331Arg
XM_011522401.1:c.991G>C	XP_011520703.1:p.Gly331Arg
XM_011522400.2:c.991G>C	XP_011520702.1:p.Gly331Arg
XM_011522401.2:c.991G>C	XP_011520703.1:p.Gly331Arg
NM_020686.6:c.991G>C MANE Select	NP_065737.2:p.Gly331Arg
NM_001127448.2:c.991G>C	NP_001120920.1:p.Gly331Arg
NM_000663.5:c.991G>C	NP_000654.2:p.Gly331Arg
NM_001386600.1:c.991G>C	NP_001373529.1:p.Gly331Arg
NM_001386601.1:c.991G>C	NP_001373530.1:p.Gly331Arg
NM_001386602.1:c.991G>C	NP_001373531.1:p.Gly331Arg
NM_001386603.1:c.991G>C	NP_001373532.1:p.Gly331Arg
NM_001386604.1:c.991G>C	NP_001373533.1:p.Gly331Arg
NM_001386605.1:c.952G>C	NP_001373534.1:p.Gly318Arg
NM_001386606.1:c.928G>C	NP_001373535.1:p.Gly310Arg
NM_001386607.1:c.928G>C	NP_001373536.1:p.Gly310Arg
NM_001386608.1:c.898G>C	NP_001373537.1:p.Gly300Arg
NM_001386609.1:c.991G>C	NP_001373538.1:p.Gly331Arg
NM_001386610.1:c.856G>C	NP_001373539.1:p.Gly286Arg
NM_001386611.1:c.856G>C	NP_001373540.1:p.Gly286Arg
NM_001386612.1:c.793G>C	NP_001373541.1:p.Gly265Arg
NM_001386613.1:c.793G>C	NP_001373542.1:p.Gly265Arg
NM_001386614.1:c.745G>C	NP_001373543.1:p.Gly249Arg
NM_001386615.1:c.1087G>C	NP_001373544.1:p.Gly363Arg
NM_001386616.1:c.991G>C	NP_001373545.1:p.Gly331Arg