Canonical Allele Identifier: CA365963343

Gene: FBXO30 EPM2A-DT

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.145805647A>C , CM000668.2:g.145805647A>C	GRCh38
NC_000006.11:g.146126783A>C , CM000668.1:g.146126783A>C	GRCh37
NC_000006.10:g.146168476A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_032145.5:c.759T>G (FBXO30) MANE Select	NP_115521.3:p.Asn253Lys
ENST00000237281.5:c.759T>G (FBXO30) MANE Select	ENSP00000237281.3:p.Asn253Lys
NM_001348092.1:c.759T>G (FBXO30)	NP_001335021.1:p.Asn253Lys
NM_001348092.2:c.759T>G (FBXO30)	NP_001335021.1:p.Asn253Lys
NM_032145.4:c.759T>G (FBXO30)	NP_115521.3:p.Asn253Lys
NR_038246.1:n.53-22714A>C (EPM2A-DT)
ENST00000237281.4:c.759T>G (FBXO30)	ENSP00000237281.3:p.Asn253Lys
XM_005267159.2:c.759T>G (FBXO30)	XP_005267216.1:p.Asn253Lys
XM_011536177.1:c.759T>G (FBXO30)	XP_011534479.1:p.Asn253Lys
XM_011536177.3:c.759T>G (FBXO30)	XP_011534479.1:p.Asn253Lys
XM_017011353.1:c.759T>G (FBXO30)	XP_016866842.1:p.Asn253Lys