Canonical Allele Identifier: CA159519
Community Standard Title: NM_021922.3(FANCE):c.229C>A (p.Pro77Thr)
Gene: FANCE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.35452774C>A , CM000668.2:g.35452774C>A GRCh38
NC_000006.11:g.35420551C>A , CM000668.1:g.35420551C>A GRCh37
NC_000006.10:g.35528529C>A NCBI36
NG_011708.1:g.5414C>A , LRG_498:g.5414C>A

Transcript Alleles

HGVS Amino-acid Change
NM_021922.3:c.229C>A MANE Select NP_068741.1:p.Pro77Thr
ENST00000229769.3:c.229C>A MANE Select ENSP00000229769.2:p.Pro77Thr
NM_021922.2:c.229C>A , LRG_498t1:c.229C>A NP_068741.1:p.Pro77Thr
ENST00000229769.2:c.229C>A ENSP00000229769.2:p.Pro77Thr
ENST00000648059.1:c.229C>A ENSP00000497902.1:p.Pro77Thr
ENST00000696264.1:c.229C>A ENSP00000512511.1:p.Pro77Thr
ENST00000696265.1:c.229C>A ENSP00000512512.1:p.Pro77Thr
XM_005248885.2:c.229C>A XP_005248942.1:p.Pro77Thr
XM_005248886.2:c.229C>A XP_005248943.1:p.Pro77Thr
XM_005248887.2:c.229C>A XP_005248944.1:p.Pro77Thr
XM_005248888.2:c.229C>A XP_005248945.1:p.Pro77Thr
XM_005248888.3:c.229C>A XP_005248945.1:p.Pro77Thr
XM_011514344.1:c.-95C>A XP_011512646.1:n.-95C>A
XR_001743226.1:n.436C>A
XR_002956267.1:n.436C>A