Canonical Allele Identifier: CA347312425

Gene: BOLA3

Linked Data

• MyVariant Identifiers: chr2:g.74372355A>G (hg19) ; chr2:g.74145228A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.74145228A>G , CM000664.2:g.74145228A>G	GRCh38
NC_000002.11:g.74372355A>G , CM000664.1:g.74372355A>G	GRCh37
NC_000002.10:g.74225863A>G	NCBI36
NG_031910.1:g.7685T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327428.10:c.130T>C MANE Select	ENSP00000331369.5:p.Phe44Leu
ENST00000295326.4:c.130T>C	ENSP00000295326.4:p.Phe44Leu
ENST00000327428.9:c.130T>C	ENSP00000331369.5:p.Phe44Leu
ENST00000469676.1:n.1153T>C
ENST00000477685.5:n.281T>C
ENST00000484655.1:n.2685T>C
NM_001035505.1:c.130T>C	NP_001030582.1:p.Phe44Leu
NM_212552.2:c.130T>C	NP_997717.2:p.Phe44Leu
NM_212552.3:c.130T>C MANE Select	NP_997717.2:p.Phe44Leu
NM_001035505.2:c.130T>C	NP_001030582.1:p.Phe44Leu