Canonical Allele Identifier: CA118444

Gene: BAAT

Linked Data

• ClinVar Variation Id: 6720
• ClinVar RCV Id: RCV000007112
• dbSNP Id: rs28937579
• ExAC: 9:104133461 T / C
• gnomAD v2: 9-104133461-T-C
• gnomAD v3: 9-101371179-T-C
• gnomAD v4: 9-101371179-T-C
• MyVariant Identifiers: chr9:g.104133461T>C (hg19) ; chr9:g.101371179T>C (hg38)
• PubMed: PMID:12704386

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