Canonical Allele Identifier: CA374254473

Gene: BAAT

Linked Data

• dbSNP Id: rs1588138033
• gnomAD v4: 9-101362702-T-C
• COSMIC: COSM317041
• MyVariant Identifiers: chr9:g.104124984T>C (hg19) ; chr9:g.101362702T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.101362702T>C , CM000671.2:g.101362702T>C	GRCh38
NC_000009.11:g.104124984T>C , CM000671.1:g.104124984T>C	GRCh37
NC_000009.10:g.103164805T>C	NCBI36
NG_009774.1:g.27304A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000259407.7:c.983A>G MANE Select	ENSP00000259407.2:p.Asp328Gly
ENST00000395051.4:c.983A>G	ENSP00000378491.3:p.Asp328Gly
ENST00000674556.1:c.983A>G	ENSP00000501610.1:p.Asp328Gly
ENST00000674791.1:c.762+221A>G	ENSP00000501644.1:n.762+221A>G
ENST00000674909.1:c.804+179A>G	ENSP00000502812.1:n.804+179A>G
ENST00000259407.6:c.983A>G	ENSP00000259407.2:p.Asp328Gly
ENST00000395051.3:c.983A>G	ENSP00000378491.3:p.Asp328Gly
NM_001127610.1:c.983A>G	NP_001121082.1:p.Asp328Gly
NM_001701.3:c.983A>G	NP_001692.1:p.Asp328Gly
NM_001127610.2:c.983A>G	NP_001121082.1:p.Asp328Gly
NM_001374715.1:c.983A>G	NP_001361644.1:p.Asp328Gly
NM_001701.4:c.983A>G MANE Select	NP_001692.1:p.Asp328Gly