Canonical Allele Identifier: CA363775059

Gene: FANCE

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35458312G>A , CM000668.2:g.35458312G>A	GRCh38
NC_000006.11:g.35426089G>A , CM000668.1:g.35426089G>A	GRCh37
NC_000006.10:g.35534067G>A	NCBI36
NG_011708.1:g.10952G>A , LRG_498:g.10952G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_021922.3:c.985G>A MANE Select	NP_068741.1:p.Ala329Thr
ENST00000229769.3:c.985G>A MANE Select	ENSP00000229769.2:p.Ala329Thr
NM_021922.2:c.985G>A , LRG_498t1:c.985G>A	NP_068741.1:p.Ala329Thr
ENST00000229769.2:c.985G>A	ENSP00000229769.2:p.Ala329Thr
ENST00000648059.1:c.985G>A	ENSP00000497902.1:p.Ala329Thr
ENST00000696264.1:c.985G>A	ENSP00000512511.1:p.Ala329Thr
ENST00000696265.1:c.985G>A	ENSP00000512512.1:p.Ala329Thr
ENST00000696266.1:c.634G>A	ENSP00000512513.1:p.Ala212Thr
ENST00000696267.1:n.1252G>A
XM_005248885.2:c.970-6G>A	XP_005248942.1:n.970-6G>A
XM_005248886.2:c.916G>A	XP_005248943.1:p.Ala306Thr
XM_005248887.2:c.985G>A	XP_005248944.1:p.Ala329Thr
XM_005248888.2:c.985G>A	XP_005248945.1:p.Ala329Thr
XM_005248888.3:c.985G>A	XP_005248945.1:p.Ala329Thr
XM_011514343.1:c.691G>A	XP_011512645.1:p.Ala231Thr
XM_011514343.2:c.691G>A	XP_011512645.1:p.Ala231Thr
XM_011514344.1:c.691G>A	XP_011512646.1:p.Ala231Thr
XR_001743226.1:n.1192G>A
XR_002956267.1:n.1492-6G>A