Canonical Allele Identifier: CA454544743
Gene: BLVRA HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.43827550C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.43787951C>G , CM000669.2:g.43787951C>G GRCh38
NC_000007.13:g.43827550C>G , CM000669.1:g.43827550C>G GRCh37
NC_000007.12:g.43794075C>G NCBI36
NG_031876.1:g.34279C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000265523.9:c.60C>G MANE Select ENSP00000265523.4:p.Gly20=
ENST00000265523.8:c.60C>G ENSP00000265523.4:p.Gly20=
ENST00000402924.5:c.60C>G ENSP00000385757.1:p.Gly20=
ENST00000424330.1:c.60C>G ENSP00000412005.1:p.Gly20=
ENST00000453612.1:n.84C>G
NM_000712.3:c.60C>G NP_000703.2:p.Gly20=
NM_001253823.1:c.60C>G NP_001240752.1:p.Gly20=
XM_011515474.1:c.60C>G XP_011513776.1:p.Gly20=
XR_428136.2:n.265-2193G>C
XR_927212.1:n.265-2193G>C
XR_927213.1:n.265-2193G>C
XM_011515474.3:c.60C>G XP_011513776.1:p.Gly20=
XM_017012520.2:c.60C>G XP_016868009.1:p.Gly20=
XM_024446867.1:c.60C>G XP_024302635.1:p.Gly20=
XR_001745190.1:n.266-2193G>C
NM_000712.4:c.60C>G MANE Select NP_000703.2:p.Gly20=
NM_001253823.2:c.60C>G NP_001240752.1:p.Gly20=