Canonical Allele Identifier: CA5160791
Gene: BAAT HGNC NCBI
MyVariant.info:
GRCh38 chr9:g.101371346C>T
GRCh37 chr9:g.104133628C>T
Revel Score:
ENST00000259407 (MANE Select) 0.103
ENST00000395051 0.103
gnomAD v2:
9:104133628 C / T
gnomAD v3:
9:101371346 C / T
gnomAD v4:
chr9-101371346-C-T
Joint Max Group AF 0.68787754 (NFE)
Genomes Max Group AF 0.69085338 (NFE)
Exomes Max Group AF 0.68741308 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.101371346C>T , CM000671.2:g.101371346C>T GRCh38
NC_000009.11:g.104133628C>T , CM000671.1:g.104133628C>T GRCh37
NC_000009.10:g.103173449C>T NCBI36
NG_009774.1:g.18660G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000259407.7:c.59G>A MANE Select ENSP00000259407.2:p.Arg20Gln
ENST00000395051.4:c.59G>A ENSP00000378491.3:p.Arg20Gln
ENST00000674556.1:c.59G>A ENSP00000501610.1:p.Arg20Gln
ENST00000674791.1:c.59G>A ENSP00000501644.1:p.Arg20Gln
ENST00000674909.1:c.59G>A ENSP00000502812.1:p.Arg20Gln
ENST00000259407.6:c.59G>A ENSP00000259407.2:p.Arg20Gln
ENST00000395051.3:c.59G>A ENSP00000378491.3:p.Arg20Gln
NM_001127610.1:c.59G>A NP_001121082.1:p.Arg20Gln
NM_001701.3:c.59G>A NP_001692.1:p.Arg20Gln
NM_001127610.2:c.59G>A NP_001121082.1:p.Arg20Gln
NM_001374715.1:c.59G>A NP_001361644.1:p.Arg20Gln
NM_001701.4:c.59G>A MANE Select NP_001692.1:p.Arg20Gln
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