Canonical Allele Identifier: CA347312778

Gene: BOLA3

Linked Data

• gnomAD v4: 2-74145297-G-T
• MyVariant Identifiers: chr2:g.74372424G>T (hg19) ; chr2:g.74145297G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.74145297G>T , CM000664.2:g.74145297G>T	GRCh38
NC_000002.11:g.74372424G>T , CM000664.1:g.74372424G>T	GRCh37
NC_000002.10:g.74225932G>T	NCBI36
NG_031910.1:g.7616C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327428.10:c.61C>A MANE Select	ENSP00000331369.5:p.Leu21Ile
ENST00000295326.4:c.61C>A	ENSP00000295326.4:p.Leu21Ile
ENST00000327428.9:c.61C>A	ENSP00000331369.5:p.Leu21Ile
ENST00000469676.1:n.1084C>A
ENST00000477685.5:n.212C>A
ENST00000484655.1:n.2616C>A
NM_001035505.1:c.61C>A	NP_001030582.1:p.Leu21Ile
NM_212552.2:c.61C>A	NP_997717.2:p.Leu21Ile
NM_212552.3:c.61C>A MANE Select	NP_997717.2:p.Leu21Ile
NM_001035505.2:c.61C>A	NP_001030582.1:p.Leu21Ile