Canonical Allele Identifier: CA367335498
Gene: BLVRA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.43787935G>C , CM000669.2:g.43787935G>C GRCh38
NC_000007.13:g.43827534G>C , CM000669.1:g.43827534G>C GRCh37
NC_000007.12:g.43794059G>C NCBI36
NG_031876.1:g.34263G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000265523.9:c.44G>C MANE Select ENSP00000265523.4:p.Gly15Ala
ENST00000265523.8:c.44G>C ENSP00000265523.4:p.Gly15Ala
ENST00000402924.5:c.44G>C ENSP00000385757.1:p.Gly15Ala
ENST00000424330.1:c.44G>C ENSP00000412005.1:p.Gly15Ala
ENST00000453612.1:n.68G>C
NM_000712.3:c.44G>C NP_000703.2:p.Gly15Ala
NM_001253823.1:c.44G>C NP_001240752.1:p.Gly15Ala
XM_011515474.1:c.44G>C XP_011513776.1:p.Gly15Ala
XR_428136.2:n.265-2177C>G
XR_927212.1:n.265-2177C>G
XR_927213.1:n.265-2177C>G
XM_011515474.3:c.44G>C XP_011513776.1:p.Gly15Ala
XM_017012520.2:c.44G>C XP_016868009.1:p.Gly15Ala
XM_024446867.1:c.44G>C XP_024302635.1:p.Gly15Ala
XR_001745190.1:n.266-2177C>G
NM_000712.4:c.44G>C MANE Select NP_000703.2:p.Gly15Ala
NM_001253823.2:c.44G>C NP_001240752.1:p.Gly15Ala