Canonical Allele Identifier: CA512719706
Gene: FTCD HGNC NCBI

Linked Data

MyVariant Identifiers: chr21:g.47570108A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.46150194A>C , CM000683.2:g.46150194A>C GRCh38
NC_000021.8:g.47570108A>C , CM000683.1:g.47570108A>C GRCh37
NC_000021.7:g.46394536A>C NCBI36
NG_016191.1:g.10374T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000397746.8:c.831T>G MANE Select ENSP00000380854.3:p.Ala277=
ENST00000291670.9:c.831T>G ENSP00000291670.5:p.Ala277=
ENST00000397743.1:c.831T>G ENSP00000380851.1:p.Ala277=
ENST00000397746.7:c.831T>G ENSP00000380854.3:p.Ala277=
ENST00000397748.5:c.831T>G ENSP00000380856.1:p.Ala277=
ENST00000498355.6:n.900T>G
NM_006657.2:c.831T>G NP_006648.1:p.Ala277=
NM_206965.1:c.831T>G NP_996848.1:p.Ala277=
XM_006723961.2:c.951T>G XP_006724024.2:p.Ala317=
XM_006723962.2:c.951T>G XP_006724025.2:p.Ala317=
XM_011529434.1:c.951T>G XP_011527736.1:p.Ala317=
XM_011529435.1:c.951T>G XP_011527737.1:p.Ala317=
XM_011529436.1:c.951T>G XP_011527738.1:p.Ala317=
XM_011529437.1:c.951T>G XP_011527739.1:p.Ala317=
XM_011529438.1:c.951T>G XP_011527740.1:p.Ala317=
XM_011529439.1:c.438T>G XP_011527741.1:p.Ala146=
XM_011529440.1:c.951T>G XP_011527742.1:p.Ala317=
XR_937433.1:n.1134T>G
NM_001320412.1:c.831T>G NP_001307341.1:p.Ala277=
XM_006723961.4:c.951T>G XP_006724024.2:p.Ala317=
XM_006723962.4:c.951T>G XP_006724025.2:p.Ala317=
XM_011529434.3:c.951T>G XP_011527736.1:p.Ala317=
XM_011529435.3:c.951T>G XP_011527737.1:p.Ala317=
XM_011529436.3:c.951T>G XP_011527738.1:p.Ala317=
XM_011529437.3:c.951T>G XP_011527739.1:p.Ala317=
XM_011529439.2:c.438T>G XP_011527741.1:p.Ala146=
XM_011529440.3:c.951T>G XP_011527742.1:p.Ala317=
XR_937433.3:n.1168T>G
NM_206965.2:c.831T>G MANE Select NP_996848.1:p.Ala277=
NM_001320412.2:c.831T>G NP_001307341.1:p.Ala277=
NM_006657.3:c.831T>G NP_006648.1:p.Ala277=