Canonical Allele Identifier: CA367335461
Gene: BLVRA HGNC NCBI

Linked Data

dbSNP Id: rs2095779907
gnomAD v3: 7-43787928-G-A
gnomAD v4: 7-43787928-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.43787928G>A , CM000669.2:g.43787928G>A GRCh38
NC_000007.13:g.43827527G>A , CM000669.1:g.43827527G>A GRCh37
NC_000007.12:g.43794052G>A NCBI36
NG_031876.1:g.34256G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000265523.9:c.37G>A MANE Select ENSP00000265523.4:p.Val13Met
ENST00000265523.8:c.37G>A ENSP00000265523.4:p.Val13Met
ENST00000402924.5:c.37G>A ENSP00000385757.1:p.Val13Met
ENST00000424330.1:c.37G>A ENSP00000412005.1:p.Val13Met
ENST00000453612.1:n.61G>A
NM_000712.3:c.37G>A NP_000703.2:p.Val13Met
NM_001253823.1:c.37G>A NP_001240752.1:p.Val13Met
XM_011515474.1:c.37G>A XP_011513776.1:p.Val13Met
XR_428136.2:n.265-2170C>T
XR_927212.1:n.265-2170C>T
XR_927213.1:n.265-2170C>T
XM_011515474.3:c.37G>A XP_011513776.1:p.Val13Met
XM_017012520.2:c.37G>A XP_016868009.1:p.Val13Met
XM_024446867.1:c.37G>A XP_024302635.1:p.Val13Met
XR_001745190.1:n.266-2170C>T
NM_000712.4:c.37G>A MANE Select NP_000703.2:p.Val13Met
NM_001253823.2:c.37G>A NP_001240752.1:p.Val13Met