Canonical Allele Identifier: CA347312327
Gene: BOLA3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.74145205T>G , CM000664.2:g.74145205T>G GRCh38
NC_000002.11:g.74372332T>G , CM000664.1:g.74372332T>G GRCh37
NC_000002.10:g.74225840T>G NCBI36
NG_031910.1:g.7708A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000327428.10:c.153A>C MANE Select ENSP00000331369.5:p.Lys51Asn
ENST00000295326.4:c.153A>C ENSP00000295326.4:p.Lys51Asn
ENST00000327428.9:c.153A>C ENSP00000331369.5:p.Lys51Asn
ENST00000469676.1:n.1176A>C
ENST00000477685.5:n.304A>C
ENST00000484655.1:n.2708A>C
NM_001035505.1:c.153A>C NP_001030582.1:p.Lys51Asn
NM_212552.2:c.153A>C NP_997717.2:p.Lys51Asn
NM_212552.3:c.153A>C MANE Select NP_997717.2:p.Lys51Asn
NM_001035505.2:c.153A>C NP_001030582.1:p.Lys51Asn