Canonical Allele Identifier: CA10074052
Community Standard Title: NM_206965.2(FTCD):c.140C>G (p.Thr47Ser)
Gene: FTCD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.46154247G>C , CM000683.2:g.46154247G>C GRCh38
NC_000021.8:g.47574161G>C , CM000683.1:g.47574161G>C GRCh37
NC_000021.7:g.46398589G>C NCBI36
NG_016191.1:g.6321C>G

Transcript Alleles

HGVS Amino-acid Change
NM_206965.2:c.140C>G MANE Select NP_996848.1:p.Thr47Ser
ENST00000397746.8:c.140C>G MANE Select ENSP00000380854.3:p.Thr47Ser
NM_001320412.1:c.140C>G NP_001307341.1:p.Thr47Ser
NM_001320412.2:c.140C>G NP_001307341.1:p.Thr47Ser
NM_006657.2:c.140C>G NP_006648.1:p.Thr47Ser
NM_006657.3:c.140C>G NP_006648.1:p.Thr47Ser
NM_206965.1:c.140C>G NP_996848.1:p.Thr47Ser
ENST00000291670.9:c.140C>G ENSP00000291670.5:p.Thr47Ser
ENST00000397743.1:c.140C>G ENSP00000380851.1:p.Thr47Ser
ENST00000397746.7:c.140C>G ENSP00000380854.3:p.Thr47Ser
ENST00000397748.5:c.140C>G ENSP00000380856.1:p.Thr47Ser
ENST00000498355.6:n.184C>G
XM_006723961.2:c.260C>G XP_006724024.2:p.Thr87Ser
XM_006723961.4:c.260C>G XP_006724024.2:p.Thr87Ser
XM_006723962.2:c.260C>G XP_006724025.2:p.Thr87Ser
XM_006723962.4:c.260C>G XP_006724025.2:p.Thr87Ser
XM_011529434.1:c.260C>G XP_011527736.1:p.Thr87Ser
XM_011529434.3:c.260C>G XP_011527736.1:p.Thr87Ser
XM_011529435.1:c.260C>G XP_011527737.1:p.Thr87Ser
XM_011529435.3:c.260C>G XP_011527737.1:p.Thr87Ser
XM_011529436.1:c.260C>G XP_011527738.1:p.Thr87Ser
XM_011529436.3:c.260C>G XP_011527738.1:p.Thr87Ser
XM_011529437.1:c.260C>G XP_011527739.1:p.Thr87Ser
XM_011529437.3:c.260C>G XP_011527739.1:p.Thr87Ser
XM_011529438.1:c.260C>G XP_011527740.1:p.Thr87Ser
XM_011529440.1:c.260C>G XP_011527742.1:p.Thr87Ser
XM_011529440.3:c.260C>G XP_011527742.1:p.Thr87Ser
XR_937433.1:n.443C>G
XR_937433.3:n.477C>G