Canonical Allele Identifier: CA10631933

Gene: BAAT

Linked Data

• ClinVar Variation Id: 364246
• ClinVar RCV Id: RCV000282209
• dbSNP Id: rs10123365
• gnomAD v2: 9-104122712-A-G
• gnomAD v3: 9-101360430-A-G
• gnomAD v4: 9-101360430-A-G
• MyVariant Identifiers: chr9:g.104122712A>G (hg19) ; chr9:g.101360430A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.101360430A>G , CM000671.2:g.101360430A>G	GRCh38
NC_000009.11:g.104122712A>G , CM000671.1:g.104122712A>G	GRCh37
NC_000009.10:g.103162533A>G	NCBI36
NG_009774.1:g.29576T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000259407.7:c.*1998T>C MANE Select	ENSP00000259407.2:n.*1998T>C
ENST00000674791.1:c.762+2493T>C	ENSP00000501644.1:n.762+2493T>C
ENST00000674909.1:c.804+2451T>C	ENSP00000502812.1:n.804+2451T>C
ENST00000259407.6:c.*1998T>C	ENSP00000259407.2:n.*1998T>C
ENST00000447628.2:n.1127+68A>G
NM_001127610.1:c.*1998T>C	NP_001121082.1:n.*1998T>C
NM_001701.3:c.*1998T>C	NP_001692.1:n.*1998T>C
NM_001127610.2:c.*1998T>C	NP_001121082.1:n.*1998T>C
NM_001374715.1:c.*1998T>C	NP_001361644.1:n.*1998T>C
NM_001701.4:c.*1998T>C MANE Select	NP_001692.1:n.*1998T>C