Canonical Allele Identifier: CA363769608
Community Standard Title: NM_021922.3(FANCE):c.2T>C (p.Met1Thr)
Gene: FANCE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.35452547T>C , CM000668.2:g.35452547T>C GRCh38
NC_000006.11:g.35420324T>C , CM000668.1:g.35420324T>C GRCh37
NC_000006.10:g.35528302T>C NCBI36
NG_011708.1:g.5187T>C , LRG_498:g.5187T>C

Transcript Alleles

HGVS Amino-acid Change
NM_021922.3:c.2T>C MANE Select NP_068741.1:p.Met1Thr
ENST00000229769.3:c.2T>C MANE Select ENSP00000229769.2:p.Met1Thr
NM_021922.2:c.2T>C , LRG_498t1:c.2T>C NP_068741.1:p.Met1Thr
ENST00000229769.2:c.2T>C ENSP00000229769.2:p.Met1Thr
ENST00000648059.1:c.2T>C ENSP00000497902.1:p.Met1Thr
ENST00000696264.1:c.2T>C ENSP00000512511.1:p.Met1Thr
ENST00000696265.1:c.2T>C ENSP00000512512.1:p.Met1Thr
XM_005248885.2:c.2T>C XP_005248942.1:p.Met1Thr
XM_005248886.2:c.2T>C XP_005248943.1:p.Met1Thr
XM_005248887.2:c.2T>C XP_005248944.1:p.Met1Thr
XM_005248888.2:c.2T>C XP_005248945.1:p.Met1Thr
XM_005248888.3:c.2T>C XP_005248945.1:p.Met1Thr
XR_001743226.1:n.209T>C
XR_002956267.1:n.209T>C