Canonical Allele Identifier: CA367335739
Gene: BLVRA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.43787974G>T , CM000669.2:g.43787974G>T GRCh38
NC_000007.13:g.43827573G>T , CM000669.1:g.43827573G>T GRCh37
NC_000007.12:g.43794098G>T NCBI36
NG_031876.1:g.34302G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000265523.9:c.83G>T MANE Select ENSP00000265523.4:p.Arg28Leu
ENST00000265523.8:c.83G>T ENSP00000265523.4:p.Arg28Leu
ENST00000402924.5:c.83G>T ENSP00000385757.1:p.Arg28Leu
ENST00000424330.1:c.83G>T ENSP00000412005.1:p.Arg28Leu
ENST00000453612.1:n.107G>T
NM_000712.3:c.83G>T NP_000703.2:p.Arg28Leu
NM_001253823.1:c.83G>T NP_001240752.1:p.Arg28Leu
XM_011515474.1:c.83G>T XP_011513776.1:p.Arg28Leu
XR_428136.2:n.265-2216C>A
XR_927212.1:n.265-2216C>A
XR_927213.1:n.265-2216C>A
XM_011515474.3:c.83G>T XP_011513776.1:p.Arg28Leu
XM_017012520.2:c.83G>T XP_016868009.1:p.Arg28Leu
XM_024446867.1:c.83G>T XP_024302635.1:p.Arg28Leu
XR_001745190.1:n.266-2216C>A
NM_000712.4:c.83G>T MANE Select NP_000703.2:p.Arg28Leu
NM_001253823.2:c.83G>T NP_001240752.1:p.Arg28Leu