Canonical Allele Identifier: CA347312277
Gene: BOLA3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.74372321A>C (hg19) chr2:g.74145194A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.74145194A>C , CM000664.2:g.74145194A>C GRCh38
NC_000002.11:g.74372321A>C , CM000664.1:g.74372321A>C GRCh37
NC_000002.10:g.74225829A>C NCBI36
NG_031910.1:g.7719T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000327428.10:c.164T>G MANE Select ENSP00000331369.5:p.Ile55Ser
ENST00000295326.4:c.164T>G ENSP00000295326.4:p.Ile55Ser
ENST00000327428.9:c.164T>G ENSP00000331369.5:p.Ile55Ser
ENST00000469676.1:n.1187T>G
ENST00000477685.5:n.315T>G
ENST00000484655.1:n.2719T>G
NM_001035505.1:c.164T>G NP_001030582.1:p.Ile55Ser
NM_212552.2:c.164T>G NP_997717.2:p.Ile55Ser
NM_212552.3:c.164T>G MANE Select NP_997717.2:p.Ile55Ser
NM_001035505.2:c.164T>G NP_001030582.1:p.Ile55Ser
Search 100 bp 5'
Search 100 bp 3'