Canonical Allele Identifier: CA128502
Gene: BLVRA HGNC NCBI

Linked Data

ClinVar Variation Id: 29613
dbSNP Id: rs387906596

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.43788022C>A , CM000669.2:g.43788022C>A GRCh38
NC_000007.13:g.43827621C>A , CM000669.1:g.43827621C>A GRCh37
NC_000007.12:g.43794146C>A NCBI36
NG_031876.1:g.34350C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000265523.9:c.131C>A MANE Select ENSP00000265523.4:p.Ser44Ter
ENST00000265523.8:c.131C>A ENSP00000265523.4:p.Ser44Ter
ENST00000402924.5:c.131C>A ENSP00000385757.1:p.Ser44Ter
ENST00000424330.1:c.131C>A ENSP00000412005.1:p.Ser44Ter
ENST00000453612.1:n.155C>A
NM_000712.3:c.131C>A NP_000703.2:p.Ser44Ter
NM_001253823.1:c.131C>A NP_001240752.1:p.Ser44Ter
XM_011515474.1:c.131C>A XP_011513776.1:p.Ser44Ter
XR_428136.2:n.265-2264G>T
XR_927212.1:n.265-2264G>T
XR_927213.1:n.265-2264G>T
XM_011515474.3:c.131C>A XP_011513776.1:p.Ser44Ter
XM_017012520.2:c.131C>A XP_016868009.1:p.Ser44Ter
XM_024446867.1:c.131C>A XP_024302635.1:p.Ser44Ter
XR_001745190.1:n.266-2264G>T
NM_000712.4:c.131C>A MANE Select NP_000703.2:p.Ser44Ter
NM_001253823.2:c.131C>A NP_001240752.1:p.Ser44Ter