Canonical Allele Identifier: CA367335603
Gene: BLVRA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.43787950G>T , CM000669.2:g.43787950G>T GRCh38
NC_000007.13:g.43827549G>T , CM000669.1:g.43827549G>T GRCh37
NC_000007.12:g.43794074G>T NCBI36
NG_031876.1:g.34278G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000265523.9:c.59G>T MANE Select ENSP00000265523.4:p.Gly20Val
ENST00000265523.8:c.59G>T ENSP00000265523.4:p.Gly20Val
ENST00000402924.5:c.59G>T ENSP00000385757.1:p.Gly20Val
ENST00000424330.1:c.59G>T ENSP00000412005.1:p.Gly20Val
ENST00000453612.1:n.83G>T
NM_000712.3:c.59G>T NP_000703.2:p.Gly20Val
NM_001253823.1:c.59G>T NP_001240752.1:p.Gly20Val
XM_011515474.1:c.59G>T XP_011513776.1:p.Gly20Val
XR_428136.2:n.265-2192C>A
XR_927212.1:n.265-2192C>A
XR_927213.1:n.265-2192C>A
XM_011515474.3:c.59G>T XP_011513776.1:p.Gly20Val
XM_017012520.2:c.59G>T XP_016868009.1:p.Gly20Val
XM_024446867.1:c.59G>T XP_024302635.1:p.Gly20Val
XR_001745190.1:n.266-2192C>A
NM_000712.4:c.59G>T MANE Select NP_000703.2:p.Gly20Val
NM_001253823.2:c.59G>T NP_001240752.1:p.Gly20Val