Canonical Allele Identifier: CA3766627
Gene: BLTP3A HGNC NCBI

Linked Data

dbSNP Id: rs11755393
gnomAD v2: 6-34824636-A-G
gnomAD v3: 6-34856859-A-G
gnomAD v4: 6-34856859-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.34856859A>G , CM000668.2:g.34856859A>G GRCh38
NC_000006.11:g.34824636A>G , CM000668.1:g.34824636A>G GRCh37
NC_000006.10:g.34932614A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000192788.6:c.1361A>G MANE Select ENSP00000192788.5:p.Gln454Arg
ENST00000192788.5:c.1361A>G ENSP00000192788.5:p.Gln454Arg
ENST00000452449.6:c.1361A>G ENSP00000400628.2:p.Gln454Arg
NM_017754.3:c.1361A>G NP_060224.3:p.Gln454Arg
XM_005249199.3:c.203A>G XP_005249256.1:p.Gln68Arg
XM_006715126.2:c.1361A>G XP_006715189.1:p.Gln454Arg
XM_011514714.1:c.1274A>G XP_011513016.1:p.Gln425Arg
XM_011514715.1:c.365A>G XP_011513017.1:p.Gln122Arg
NM_017754.4:c.1361A>G MANE Select NP_060224.3:p.Gln454Arg