Canonical Allele Identifier: CA118444
Gene: BAAT HGNC NCBI
MyVariant.info:
GRCh38 chr9:g.101371179T>C
GRCh37 chr9:g.104133461T>C
Revel Score:
ENST00000259407 (MANE Select) 0.710
ENST00000395051 0.710
gnomAD v2:
9:104133461 T / C
gnomAD v3:
9:101371179 T / C
gnomAD v4:
chr9-101371179-T-C
Joint Max Group AF 0.000005 (NFE)
Exomes Max Group AF 0.00000455 (NFE)
ClinVar RCV:
RCV000007112
ClinVar Variation:
6720
dbSNP:
28937579
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.101371179T>C , CM000671.2:g.101371179T>C GRCh38
NC_000009.11:g.104133461T>C , CM000671.1:g.104133461T>C GRCh37
NC_000009.10:g.103173282T>C NCBI36
NG_009774.1:g.18827A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000259407.7:c.226A>G MANE Select ENSP00000259407.2:p.Met76Val
ENST00000395051.4:c.226A>G ENSP00000378491.3:p.Met76Val
ENST00000674556.1:c.226A>G ENSP00000501610.1:p.Met76Val
ENST00000674791.1:c.226A>G ENSP00000501644.1:p.Met76Val
ENST00000674909.1:c.226A>G ENSP00000502812.1:p.Met76Val
ENST00000259407.6:c.226A>G ENSP00000259407.2:p.Met76Val
ENST00000395051.3:c.226A>G ENSP00000378491.3:p.Met76Val
NM_001127610.1:c.226A>G NP_001121082.1:p.Met76Val
NM_001701.3:c.226A>G NP_001692.1:p.Met76Val
NM_001127610.2:c.226A>G NP_001121082.1:p.Met76Val
NM_001374715.1:c.226A>G NP_001361644.1:p.Met76Val
NM_001701.4:c.226A>G MANE Select NP_001692.1:p.Met76Val
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