Canonical Allele Identifier: CA7893003

Gene: ABAT

Linked Data

• ClinVar Variation Id: 320843
• ClinVar RCV Id: RCV000284451 ; RCV000676428
• dbSNP Id: rs1641010
• ExAC: 16:8841960 T / C
• gnomAD v2: 16-8841960-T-C
• gnomAD v3: 16-8748103-T-C
• gnomAD v4: 16-8748103-T-C
• MyVariant Identifiers: chr16:g.8841960T>C (hg19) ; chr16:g.8748103T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8748103T>C , CM000678.2:g.8748103T>C	GRCh38
NC_000016.9:g.8841960T>C , CM000678.1:g.8841960T>C	GRCh37
NC_000016.8:g.8749461T>C	NCBI36
NG_008432.1:g.78517T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268251.13:c.169-5T>C MANE Select	ENSP00000268251.8:n.169-5T>C
ENST00000268251.12:c.169-5T>C	ENSP00000268251.8:n.169-5T>C
ENST00000396600.6:c.169-5T>C	ENSP00000379845.2:n.169-5T>C
ENST00000425191.6:c.169-5T>C	ENSP00000411916.2:n.169-5T>C
ENST00000561870.5:c.169-5T>C	ENSP00000456267.1:n.169-5T>C
ENST00000562115.1:c.169-5T>C	ENSP00000455502.1:n.169-5T>C
ENST00000564714.5:c.223-5T>C	ENSP00000456392.1:n.223-5T>C
ENST00000565016.5:c.181-5T>C	ENSP00000454415.1:n.181-5T>C
ENST00000565671.1:n.98-5T>C
ENST00000566590.5:c.71-5T>C	ENSP00000455198.1:n.71-5T>C
ENST00000567812.5:c.214-5T>C	ENSP00000456330.1:n.214-5T>C
ENST00000569156.5:c.169-5T>C	ENSP00000454963.1:n.169-5T>C
NM_000663.4:c.169-5T>C	NP_000654.2:n.169-5T>C
NM_001127448.1:c.169-5T>C	NP_001120920.1:n.169-5T>C
NM_020686.5:c.169-5T>C	NP_065737.2:n.169-5T>C
XM_011522400.1:c.169-5T>C	XP_011520702.1:n.169-5T>C
XM_011522401.1:c.169-5T>C	XP_011520703.1:n.169-5T>C
XM_011522400.2:c.169-5T>C	XP_011520702.1:n.169-5T>C
XM_011522401.2:c.169-5T>C	XP_011520703.1:n.169-5T>C
NM_020686.6:c.169-5T>C MANE Select	NP_065737.2:n.169-5T>C
NM_001127448.2:c.169-5T>C	NP_001120920.1:n.169-5T>C
NM_000663.5:c.169-5T>C	NP_000654.2:n.169-5T>C
NM_001386600.1:c.169-5T>C	NP_001373529.1:n.169-5T>C
NM_001386601.1:c.169-5T>C	NP_001373530.1:n.169-5T>C
NM_001386602.1:c.169-5T>C	NP_001373531.1:n.169-5T>C
NM_001386603.1:c.169-5T>C	NP_001373532.1:n.169-5T>C
NM_001386604.1:c.169-5T>C	NP_001373533.1:n.169-5T>C
NM_001386605.1:c.169-5T>C	NP_001373534.1:n.169-5T>C
NM_001386606.1:c.169-5T>C	NP_001373535.1:n.169-5T>C
NM_001386607.1:c.169-5T>C	NP_001373536.1:n.169-5T>C
NM_001386608.1:c.169-5T>C	NP_001373537.1:n.169-5T>C
NM_001386609.1:c.169-5T>C	NP_001373538.1:n.169-5T>C
NM_001386610.1:c.71-5T>C	NP_001373539.1:n.71-5T>C
NM_001386611.1:c.34-5T>C	NP_001373540.1:n.34-5T>C
NM_001386612.1:c.34-5T>C	NP_001373541.1:n.34-5T>C
NM_001386613.1:c.34-5T>C	NP_001373542.1:n.34-5T>C
NM_001386614.1:c.71-9654T>C	NP_001373543.1:n.71-9654T>C
NM_001386615.1:c.169-5T>C	NP_001373544.1:n.169-5T>C
NM_001386616.1:c.169-5T>C	NP_001373545.1:n.169-5T>C