Canonical Allele Identifier: CA466650517

Gene: BAAT

Linked Data

• gnomAD v4: 9-101362620-T-G
• MyVariant Identifiers: chr9:g.104124902T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.101362620T>G , CM000671.2:g.101362620T>G	GRCh38
NC_000009.11:g.104124902T>G , CM000671.1:g.104124902T>G	GRCh37
NC_000009.10:g.103164723T>G	NCBI36
NG_009774.1:g.27386A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000259407.7:c.1065A>C MANE Select	ENSP00000259407.2:p.Leu355=
ENST00000395051.4:c.1065A>C	ENSP00000378491.3:p.Leu355=
ENST00000674556.1:c.1065A>C	ENSP00000501610.1:p.Leu355=
ENST00000674791.1:c.762+303A>C	ENSP00000501644.1:n.762+303A>C
ENST00000674909.1:c.804+261A>C	ENSP00000502812.1:n.804+261A>C
ENST00000259407.6:c.1065A>C	ENSP00000259407.2:p.Leu355=
ENST00000395051.3:c.1065A>C	ENSP00000378491.3:p.Leu355=
NM_001127610.1:c.1065A>C	NP_001121082.1:p.Leu355=
NM_001701.3:c.1065A>C	NP_001692.1:p.Leu355=
NM_001127610.2:c.1065A>C	NP_001121082.1:p.Leu355=
NM_001374715.1:c.1065A>C	NP_001361644.1:p.Leu355=
NM_001701.4:c.1065A>C MANE Select	NP_001692.1:p.Leu355=