Canonical Allele Identifier: CA374254518

Gene: BAAT

Linked Data

• MyVariant Identifiers: chr9:g.104125005A>C (hg19) ; chr9:g.101362723A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.101362723A>C , CM000671.2:g.101362723A>C	GRCh38
NC_000009.11:g.104125005A>C , CM000671.1:g.104125005A>C	GRCh37
NC_000009.10:g.103164826A>C	NCBI36
NG_009774.1:g.27283T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000259407.7:c.962T>G MANE Select	ENSP00000259407.2:p.Leu321Arg
ENST00000395051.4:c.962T>G	ENSP00000378491.3:p.Leu321Arg
ENST00000674556.1:c.962T>G	ENSP00000501610.1:p.Leu321Arg
ENST00000674791.1:c.762+200T>G	ENSP00000501644.1:n.762+200T>G
ENST00000674909.1:c.804+158T>G	ENSP00000502812.1:n.804+158T>G
ENST00000259407.6:c.962T>G	ENSP00000259407.2:p.Leu321Arg
ENST00000395051.3:c.962T>G	ENSP00000378491.3:p.Leu321Arg
NM_001127610.1:c.962T>G	NP_001121082.1:p.Leu321Arg
NM_001701.3:c.962T>G	NP_001692.1:p.Leu321Arg
NM_001127610.2:c.962T>G	NP_001121082.1:p.Leu321Arg
NM_001374715.1:c.962T>G	NP_001361644.1:p.Leu321Arg
NM_001701.4:c.962T>G MANE Select	NP_001692.1:p.Leu321Arg