Canonical Allele Identifier: CA374254352

Gene: BAAT

Linked Data

• gnomAD v4: 9-101362643-C-G
• MyVariant Identifiers: chr9:g.104124925C>G (hg19) ; chr9:g.101362643C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.101362643C>G , CM000671.2:g.101362643C>G	GRCh38
NC_000009.11:g.104124925C>G , CM000671.1:g.104124925C>G	GRCh37
NC_000009.10:g.103164746C>G	NCBI36
NG_009774.1:g.27363G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000259407.7:c.1042G>C MANE Select	ENSP00000259407.2:p.Gly348Arg
ENST00000395051.4:c.1042G>C	ENSP00000378491.3:p.Gly348Arg
ENST00000674556.1:c.1042G>C	ENSP00000501610.1:p.Gly348Arg
ENST00000674791.1:c.762+280G>C	ENSP00000501644.1:n.762+280G>C
ENST00000674909.1:c.804+238G>C	ENSP00000502812.1:n.804+238G>C
ENST00000259407.6:c.1042G>C	ENSP00000259407.2:p.Gly348Arg
ENST00000395051.3:c.1042G>C	ENSP00000378491.3:p.Gly348Arg
NM_001127610.1:c.1042G>C	NP_001121082.1:p.Gly348Arg
NM_001701.3:c.1042G>C	NP_001692.1:p.Gly348Arg
NM_001127610.2:c.1042G>C	NP_001121082.1:p.Gly348Arg
NM_001374715.1:c.1042G>C	NP_001361644.1:p.Gly348Arg
NM_001701.4:c.1042G>C MANE Select	NP_001692.1:p.Gly348Arg