Canonical Allele Identifier: CA361655489

Gene: FBXO38

Linked Data

• ClinVar Variation Id: 1466018
• ClinVar RCV Id: RCV001979507
• dbSNP Id: rs2113621540
• MyVariant Identifiers: chr5:g.147805147G>T (hg19) ; chr5:g.148425584G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.148425584G>T , CM000667.2:g.148425584G>T	GRCh38
NC_000005.9:g.147805147G>T , CM000667.1:g.147805147G>T	GRCh37
NC_000005.8:g.147785340G>T	NCBI36
NG_033871.1:g.46650G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340253.10:c.1801G>T MANE Select	ENSP00000342023.6:p.Asp601Tyr
ENST00000296701.10:c.1801G>T	ENSP00000296701.6:p.Asp601Tyr
ENST00000340253.9:c.1801G>T	ENSP00000342023.5:p.Asp601Tyr
ENST00000394370.7:c.1801G>T	ENSP00000377895.3:p.Asp601Tyr
ENST00000513826.1:c.1801G>T	ENSP00000426410.1:p.Asp601Tyr
ENST00000514832.1:n.432G>T
NM_001271723.1:c.1801G>T	NP_001258652.1:p.Asp601Tyr
NM_030793.4:c.1801G>T	NP_110420.3:p.Asp601Tyr
XM_005268513.1:c.1801G>T	XP_005268570.1:p.Asp601Tyr
XM_006714797.1:c.1801G>T	XP_006714860.1:p.Asp601Tyr
XM_011537683.1:c.703G>T	XP_011535985.1:p.Asp235Tyr
XM_011537684.1:c.601G>T	XP_011535986.1:p.Asp201Tyr
NM_205836.2:c.1801G>T	NP_995308.1:p.Asp601Tyr
XM_006714797.2:c.1801G>T	XP_006714860.1:p.Asp601Tyr
XM_011537684.3:c.601G>T	XP_011535986.1:p.Asp201Tyr
XM_017009899.1:c.703G>T	XP_016865388.1:p.Asp235Tyr
XM_017009900.2:c.601G>T	XP_016865389.1:p.Asp201Tyr
XM_017009901.2:c.703G>T	XP_016865390.1:p.Asp235Tyr
XM_017009902.2:c.601G>T	XP_016865391.1:p.Asp201Tyr
XM_024446223.1:c.1801G>T	XP_024301991.1:p.Asp601Tyr
XR_001742284.1:n.1947G>T
NM_030793.5:c.1801G>T	NP_110420.3:p.Asp601Tyr
NM_205836.3:c.1801G>T MANE Select	NP_995308.1:p.Asp601Tyr
NM_001271723.2:c.1801G>T	NP_001258652.1:p.Asp601Tyr