Canonical Allele Identifier: CA374254432
Gene: BAAT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.101362684T>C , CM000671.2:g.101362684T>C GRCh38
NC_000009.11:g.104124966T>C , CM000671.1:g.104124966T>C GRCh37
NC_000009.10:g.103164787T>C NCBI36
NG_009774.1:g.27322A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000259407.7:c.1001A>G MANE Select ENSP00000259407.2:p.Lys334Arg
ENST00000395051.4:c.1001A>G ENSP00000378491.3:p.Lys334Arg
ENST00000674556.1:c.1001A>G ENSP00000501610.1:p.Lys334Arg
ENST00000674791.1:c.762+239A>G ENSP00000501644.1:n.762+239A>G
ENST00000674909.1:c.804+197A>G ENSP00000502812.1:n.804+197A>G
ENST00000259407.6:c.1001A>G ENSP00000259407.2:p.Lys334Arg
ENST00000395051.3:c.1001A>G ENSP00000378491.3:p.Lys334Arg
NM_001127610.1:c.1001A>G NP_001121082.1:p.Lys334Arg
NM_001701.3:c.1001A>G NP_001692.1:p.Lys334Arg
NM_001127610.2:c.1001A>G NP_001121082.1:p.Lys334Arg
NM_001374715.1:c.1001A>G NP_001361644.1:p.Lys334Arg
NM_001701.4:c.1001A>G MANE Select NP_001692.1:p.Lys334Arg