Canonical Allele Identifier: CA394164917
Gene: BAIAP3 HGNC NCBI

Linked Data

gnomAD v4: 16-1342940-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1342940C>A , CM000678.2:g.1342940C>A GRCh38
NC_000016.9:g.1392941C>A , CM000678.1:g.1392941C>A GRCh37
NC_000016.8:g.1332942C>A NCBI36
NG_033974.1:g.14336C>A
NG_033974.2:g.14336C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000561793.2:c.458C>A
ENST00000564213.2:c.1189C>A ENSP00000518583.1:p.Leu397Ile
ENST00000565665.6:n.1562C>A
ENST00000567203.2:n.1304C>A
ENST00000711102.1:c.1189C>A ENSP00000518580.1:p.Leu397Ile
ENST00000711103.1:c.1189C>A ENSP00000518581.1:p.Leu397Ile
ENST00000711104.1:c.1240C>A ENSP00000518582.1:p.Leu414Ile
ENST00000711105.1:c.1189C>A ENSP00000518584.1:p.Leu397Ile
ENST00000711111.1:n.1305C>A
ENST00000426824.8:c.1189C>A MANE Select ENSP00000407242.4:p.Leu397Ile
ENST00000324385.9:c.1294C>A ENSP00000324510.5:p.Leu432Ile
ENST00000397488.6:c.1240C>A ENSP00000380625.2:p.Leu414Ile
ENST00000421665.6:c.1081C>A ENSP00000409533.2:p.Leu361Ile
ENST00000426824.7:c.1189C>A ENSP00000407242.3:p.Leu397Ile
ENST00000562208.5:c.1120C>A ENSP00000458134.1:p.Leu374Ile
ENST00000568887.5:c.1105C>A ENSP00000457644.1:p.Leu369Ile
ENST00000628027.2:c.1240C>A ENSP00000487275.1:p.Leu414Ile
NM_001199096.1:c.1081C>A NP_001186025.1:p.Leu361Ile
NM_001199097.1:c.1189C>A NP_001186026.1:p.Leu397Ile
NM_001199098.1:c.1120C>A NP_001186027.1:p.Leu374Ile
NM_001199099.1:c.1105C>A NP_001186028.1:p.Leu369Ile
NM_001286464.1:c.1240C>A NP_001273393.1:p.Leu414Ile
NM_003933.4:c.1294C>A NP_003924.2:p.Leu432Ile
XM_011522728.1:c.1345C>A XP_011521030.1:p.Leu449Ile
XM_011522729.1:c.1345C>A XP_011521031.1:p.Leu449Ile
XM_011522730.1:c.1345C>A XP_011521032.1:p.Leu449Ile
XM_011522730.2:c.1345C>A XP_011521032.1:p.Leu449Ile
NM_001199097.2:c.1189C>A MANE Select NP_001186026.1:p.Leu397Ile
NM_001199098.2:c.1120C>A NP_001186027.1:p.Leu374Ile
NM_001199099.2:c.1105C>A NP_001186028.1:p.Leu369Ile
NM_001286464.2:c.1240C>A NP_001273393.2:p.Leu414Ile
NM_001199096.2:c.1081C>A NP_001186025.1:p.Leu361Ile
NM_003933.5:c.1294C>A NP_003924.2:p.Leu432Ile