Canonical Allele Identifier: CA426814046

Gene: BOLA3

Linked Data

• dbSNP Id: rs1692523908
• gnomAD v3: 2-74145295-A-G
• gnomAD v4: 2-74145295-A-G
• MyVariant Identifiers: chr2:g.74372422A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.74145295A>G , CM000664.2:g.74145295A>G	GRCh38
NC_000002.11:g.74372422A>G , CM000664.1:g.74372422A>G	GRCh37
NC_000002.10:g.74225930A>G	NCBI36
NG_031910.1:g.7618T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327428.10:c.63T>C MANE Select	ENSP00000331369.5:p.Leu21=
ENST00000295326.4:c.63T>C	ENSP00000295326.4:p.Leu21=
ENST00000327428.9:c.63T>C	ENSP00000331369.5:p.Leu21=
ENST00000469676.1:n.1086T>C
ENST00000477685.5:n.214T>C
ENST00000484655.1:n.2618T>C
NM_001035505.1:c.63T>C	NP_001030582.1:p.Leu21=
NM_212552.2:c.63T>C	NP_997717.2:p.Leu21=
NM_212552.3:c.63T>C MANE Select	NP_997717.2:p.Leu21=
NM_001035505.2:c.63T>C	NP_001030582.1:p.Leu21=