Canonical Allele Identifier: CA10648222

Gene: ABAT TMEM186

Linked Data

• ClinVar Variation Id: 321110
• ClinVar RCV Id: RCV000356444
• dbSNP Id: rs886052437
• gnomAD v2: 16-8876397-A-C
• gnomAD v3: 16-8782540-A-C
• gnomAD v4: 16-8782540-A-C
• MyVariant Identifiers: chr16:g.8876397A>C (hg19) ; chr16:g.8782540A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8782540A>C , CM000678.2:g.8782540A>C	GRCh38
NC_000016.9:g.8876397A>C , CM000678.1:g.8876397A>C	GRCh37
NC_000016.8:g.8783898A>C	NCBI36
NG_008432.1:g.112954A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268251.13:c.*1110A>C (ABAT) MANE Select	ENSP00000268251.8:n.*1110A>C
ENST00000268251.12:c.*1110A>C (ABAT)	ENSP00000268251.8:n.*1110A>C
ENST00000396600.6:c.*1110A>C (ABAT)	ENSP00000379845.2:n.*1110A>C
ENST00000564869.1:n.32-1096T>G (TMEM186)
NM_000663.4:c.*1110A>C (ABAT)	NP_000654.2:n.*1110A>C
NM_001127448.1:c.*1110A>C (ABAT)	NP_001120920.1:n.*1110A>C
NM_020686.5:c.*1110A>C (ABAT)	NP_065737.2:n.*1110A>C
XM_011522400.1:c.*1110A>C (ABAT)	XP_011520702.1:n.*1110A>C
XM_011522401.1:c.*1110A>C (ABAT)	XP_011520703.1:n.*1110A>C
XM_011522400.2:c.*1110A>C (ABAT)	XP_011520702.1:n.*1110A>C
XM_011522401.2:c.*1110A>C (ABAT)	XP_011520703.1:n.*1110A>C
NM_020686.6:c.*1110A>C (ABAT) MANE Select	NP_065737.2:n.*1110A>C
NM_001127448.2:c.*1110A>C (ABAT)	NP_001120920.1:n.*1110A>C
NM_000663.5:c.*1110A>C (ABAT)	NP_000654.2:n.*1110A>C
NM_001386600.1:c.*1110A>C (ABAT)	NP_001373529.1:n.*1110A>C
NM_001386601.1:c.*1110A>C (ABAT)	NP_001373530.1:n.*1110A>C
NM_001386602.1:c.*1110A>C (ABAT)	NP_001373531.1:n.*1110A>C
NM_001386603.1:c.*1110A>C (ABAT)	NP_001373532.1:n.*1110A>C
NM_001386604.1:c.*1110A>C (ABAT)	NP_001373533.1:n.*1110A>C
NM_001386605.1:c.*1110A>C (ABAT)	NP_001373534.1:n.*1110A>C
NM_001386606.1:c.*1110A>C (ABAT)	NP_001373535.1:n.*1110A>C
NM_001386607.1:c.*1110A>C (ABAT)	NP_001373536.1:n.*1110A>C
NM_001386608.1:c.*1110A>C (ABAT)	NP_001373537.1:n.*1110A>C
NM_001386609.1:c.*1124A>C (ABAT)	NP_001373538.1:n.*1124A>C
NM_001386610.1:c.*1110A>C (ABAT)	NP_001373539.1:n.*1110A>C
NM_001386611.1:c.*1110A>C (ABAT)	NP_001373540.1:n.*1110A>C
NM_001386612.1:c.*1110A>C (ABAT)	NP_001373541.1:n.*1110A>C
NM_001386613.1:c.*1110A>C (ABAT)	NP_001373542.1:n.*1110A>C
NM_001386614.1:c.*1110A>C (ABAT)	NP_001373543.1:n.*1110A>C
NM_001386615.1:c.*1110A>C (ABAT)	NP_001373544.1:n.*1110A>C
NM_001386616.1:c.*1124A>C (ABAT)	NP_001373545.1:n.*1124A>C