Canonical Allele Identifier: CA2577007265

Gene: BOLA3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.74145145A>G , CM000664.2:g.74145145A>G	GRCh38
NC_000002.11:g.74372272A>G , CM000664.1:g.74372272A>G	GRCh37
NC_000002.10:g.74225780A>G	NCBI36
NG_031910.1:g.7768T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000327428.10:c.169+44T>C MANE Select	ENSP00000331369.5:n.169+44T>C
ENST00000295326.4:c.169+44T>C	ENSP00000295326.4:n.169+44T>C
ENST00000327428.9:c.169+44T>C	ENSP00000331369.5:n.169+44T>C
ENST00000469676.1:n.1192+44T>C
ENST00000477685.5:n.320+44T>C
ENST00000484655.1:n.2724+44T>C
NM_001035505.1:c.169+44T>C	NP_001030582.1:n.169+44T>C
NM_212552.2:c.169+44T>C	NP_997717.2:n.169+44T>C
NM_212552.3:c.169+44T>C MANE Select	NP_997717.2:n.169+44T>C
NM_001035505.2:c.169+44T>C	NP_001030582.1:n.169+44T>C