Canonical Allele Identifier: CA347312587
Gene: BOLA3 HGNC NCBI

Linked Data

dbSNP Id: rs1376081762
gnomAD v2: 2-74372385-G-C
gnomAD v4: 2-74145258-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.74145258G>C , CM000664.2:g.74145258G>C GRCh38
NC_000002.11:g.74372385G>C , CM000664.1:g.74372385G>C GRCh37
NC_000002.10:g.74225893G>C NCBI36
NG_031910.1:g.7655C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000327428.10:c.100C>G MANE Select ENSP00000331369.5:p.Leu34Val
ENST00000295326.4:c.100C>G ENSP00000295326.4:p.Leu34Val
ENST00000327428.9:c.100C>G ENSP00000331369.5:p.Leu34Val
ENST00000469676.1:n.1123C>G
ENST00000477685.5:n.251C>G
ENST00000484655.1:n.2655C>G
NM_001035505.1:c.100C>G NP_001030582.1:p.Leu34Val
NM_212552.2:c.100C>G NP_997717.2:p.Leu34Val
NM_212552.3:c.100C>G MANE Select NP_997717.2:p.Leu34Val
NM_001035505.2:c.100C>G NP_001030582.1:p.Leu34Val