Canonical Allele Identifier: CA374254535

Gene: BAAT

Linked Data

• dbSNP Id: rs1829755214
• gnomAD v4: 9-101362729-T-C
• MyVariant Identifiers: chr9:g.104125011T>C (hg19) ; chr9:g.101362729T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.101362729T>C , CM000671.2:g.101362729T>C	GRCh38
NC_000009.11:g.104125011T>C , CM000671.1:g.104125011T>C	GRCh37
NC_000009.10:g.103164832T>C	NCBI36
NG_009774.1:g.27277A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000259407.7:c.956A>G MANE Select	ENSP00000259407.2:p.Gln319Arg
ENST00000395051.4:c.956A>G	ENSP00000378491.3:p.Gln319Arg
ENST00000674556.1:c.956A>G	ENSP00000501610.1:p.Gln319Arg
ENST00000674791.1:c.762+194A>G	ENSP00000501644.1:n.762+194A>G
ENST00000674909.1:c.804+152A>G	ENSP00000502812.1:n.804+152A>G
ENST00000259407.6:c.956A>G	ENSP00000259407.2:p.Gln319Arg
ENST00000395051.3:c.956A>G	ENSP00000378491.3:p.Gln319Arg
NM_001127610.1:c.956A>G	NP_001121082.1:p.Gln319Arg
NM_001701.3:c.956A>G	NP_001692.1:p.Gln319Arg
NM_001127610.2:c.956A>G	NP_001121082.1:p.Gln319Arg
NM_001374715.1:c.956A>G	NP_001361644.1:p.Gln319Arg
NM_001701.4:c.956A>G MANE Select	NP_001692.1:p.Gln319Arg