Canonical Allele Identifier: CA363739168

Gene: BLTP3A

Linked Data

• dbSNP Id: rs11755393
• gnomAD v4: 6-34856859-A-T
• MyVariant Identifiers: chr6:g.34824636A>T (hg19) ; chr6:g.34856859A>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000192788.6:c.1361A>T MANE Select	ENSP00000192788.5:p.Gln454Leu
ENST00000192788.5:c.1361A>T	ENSP00000192788.5:p.Gln454Leu
ENST00000452449.6:c.1361A>T	ENSP00000400628.2:p.Gln454Leu
NM_017754.3:c.1361A>T	NP_060224.3:p.Gln454Leu
XM_005249199.3:c.203A>T	XP_005249256.1:p.Gln68Leu
XM_006715126.2:c.1361A>T	XP_006715189.1:p.Gln454Leu
XM_011514714.1:c.1274A>T	XP_011513016.1:p.Gln425Leu
XM_011514715.1:c.365A>T	XP_011513017.1:p.Gln122Leu
NM_017754.4:c.1361A>T MANE Select	NP_060224.3:p.Gln454Leu