Canonical Allele Identifier: CA367335803

Gene: BLVRA

Linked Data

• dbSNP Id: rs778261680
• gnomAD v2: 7-43827585-C-A
• gnomAD v4: 7-43787986-C-A
• MyVariant Identifiers: chr7:g.43827585C>A (hg19) ; chr7:g.43787986C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.43787986C>A , CM000669.2:g.43787986C>A	GRCh38
NC_000007.13:g.43827585C>A , CM000669.1:g.43827585C>A	GRCh37
NC_000007.12:g.43794110C>A	NCBI36
NG_031876.1:g.34314C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265523.9:c.95C>A MANE Select	ENSP00000265523.4:p.Pro32His
ENST00000265523.8:c.95C>A	ENSP00000265523.4:p.Pro32His
ENST00000402924.5:c.95C>A	ENSP00000385757.1:p.Pro32His
ENST00000424330.1:c.95C>A	ENSP00000412005.1:p.Pro32His
ENST00000453612.1:n.119C>A
NM_000712.3:c.95C>A	NP_000703.2:p.Pro32His
NM_001253823.1:c.95C>A	NP_001240752.1:p.Pro32His
XM_011515474.1:c.95C>A	XP_011513776.1:p.Pro32His
XR_428136.2:n.265-2228G>T
XR_927212.1:n.265-2228G>T
XR_927213.1:n.265-2228G>T
XM_011515474.3:c.95C>A	XP_011513776.1:p.Pro32His
XM_017012520.2:c.95C>A	XP_016868009.1:p.Pro32His
XM_024446867.1:c.95C>A	XP_024302635.1:p.Pro32His
XR_001745190.1:n.266-2228G>T
NM_000712.4:c.95C>A MANE Select	NP_000703.2:p.Pro32His
NM_001253823.2:c.95C>A	NP_001240752.1:p.Pro32His