Canonical Allele Identifier: CA533707967

Gene: BOLA3

Linked Data

• dbSNP Id: rs1386221445
• gnomAD v2: 2-74372277-C-T
• gnomAD v4: 2-74145150-C-T
• MyVariant Identifiers: chr2:g.74372277C>T (hg19) ; chr2:g.74145150C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.74145150C>T , CM000664.2:g.74145150C>T	GRCh38
NC_000002.11:g.74372277C>T , CM000664.1:g.74372277C>T	GRCh37
NC_000002.10:g.74225785C>T	NCBI36
NG_031910.1:g.7763G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327428.10:c.169+39G>A MANE Select	ENSP00000331369.5:n.169+39G>A
ENST00000295326.4:c.169+39G>A	ENSP00000295326.4:n.169+39G>A
ENST00000327428.9:c.169+39G>A	ENSP00000331369.5:n.169+39G>A
ENST00000469676.1:n.1192+39G>A
ENST00000477685.5:n.320+39G>A
ENST00000484655.1:n.2724+39G>A
NM_001035505.1:c.169+39G>A	NP_001030582.1:n.169+39G>A
NM_212552.2:c.169+39G>A	NP_997717.2:n.169+39G>A
NM_212552.3:c.169+39G>A MANE Select	NP_997717.2:n.169+39G>A
NM_001035505.2:c.169+39G>A	NP_001030582.1:n.169+39G>A