Canonical Allele Identifier: CA2659654001

Gene: BOLA3

Linked Data

• gnomAD v4: 2-74145134-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.74145134T>C , CM000664.2:g.74145134T>C	GRCh38
NC_000002.11:g.74372261T>C , CM000664.1:g.74372261T>C	GRCh37
NC_000002.10:g.74225769T>C	NCBI36
NG_031910.1:g.7779A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000327428.10:c.169+55A>G MANE Select	ENSP00000331369.5:n.169+55A>G
ENST00000295326.4:c.169+55A>G	ENSP00000295326.4:n.169+55A>G
ENST00000327428.9:c.169+55A>G	ENSP00000331369.5:n.169+55A>G
ENST00000469676.1:n.1192+55A>G
ENST00000477685.5:n.320+55A>G
ENST00000484655.1:n.2724+55A>G
NM_001035505.1:c.169+55A>G	NP_001030582.1:n.169+55A>G
NM_212552.2:c.169+55A>G	NP_997717.2:n.169+55A>G
NM_212552.3:c.169+55A>G MANE Select	NP_997717.2:n.169+55A>G
NM_001035505.2:c.169+55A>G	NP_001030582.1:n.169+55A>G