Canonical Allele Identifier: CA10073315

Gene: FTCD

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46137022G>T , CM000683.2:g.46137022G>T	GRCh38
NC_000021.8:g.47556936G>T , CM000683.1:g.47556936G>T	GRCh37
NC_000021.7:g.46381364G>T	NCBI36
NG_016191.1:g.23546C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_206965.2:c.1591C>A MANE Select	NP_996848.1:p.Leu531Met
ENST00000397746.8:c.1591C>A MANE Select	ENSP00000380854.3:p.Leu531Met
NM_001320412.1:c.1571C>A	NP_001307341.1:p.Thr524Asn
NM_001320412.2:c.1571C>A	NP_001307341.1:p.Thr524Asn
NM_006657.2:c.1591C>A	NP_006648.1:p.Leu531Met
NM_006657.3:c.1591C>A	NP_006648.1:p.Leu531Met
NM_206965.1:c.1591C>A	NP_996848.1:p.Leu531Met
ENST00000291670.9:c.1591C>A	ENSP00000291670.5:p.Leu531Met
ENST00000397743.1:c.*59C>A	ENSP00000380851.1:n.*59C>A
ENST00000397746.7:c.1591C>A	ENSP00000380854.3:p.Leu531Met
ENST00000397748.5:c.1571C>A	ENSP00000380856.1:p.Thr524Asn
ENST00000446405.5:c.193C>A
ENST00000460011.5:n.920C>A
ENST00000460011.6:c.127C>A	ENSP00000507070.1:p.Leu43Met
ENST00000483568.5:n.128C>A
ENST00000494498.2:c.325C>A	ENSP00000507847.1:p.Leu109Met
ENST00000498355.6:n.1660C>A
XM_006723961.2:c.1840C>A	XP_006724024.2:p.Leu614Met
XM_006723961.4:c.1840C>A	XP_006724024.2:p.Leu614Met
XM_006723962.2:c.1820C>A	XP_006724025.2:p.Thr607Asn
XM_006723962.4:c.1820C>A	XP_006724025.2:p.Thr607Asn
XM_011529434.1:c.1820C>A	XP_011527736.1:p.Thr607Asn
XM_011529434.3:c.1820C>A	XP_011527736.1:p.Thr607Asn
XM_011529435.1:c.1691C>A	XP_011527737.1:p.Thr564Asn
XM_011529435.3:c.1691C>A	XP_011527737.1:p.Thr564Asn
XM_011529436.1:c.1820C>A	XP_011527738.1:p.Thr607Asn
XM_011529436.3:c.1820C>A	XP_011527738.1:p.Thr607Asn
XM_011529437.1:c.1840C>A	XP_011527739.1:p.Leu614Met
XM_011529437.3:c.1840C>A	XP_011527739.1:p.Leu614Met
XM_011529438.1:c.1691C>A	XP_011527740.1:p.Thr564Asn
XM_011529439.1:c.1307C>A	XP_011527741.1:p.Thr436Asn
XM_011529439.2:c.1307C>A	XP_011527741.1:p.Thr436Asn
XR_937433.1:n.2023C>A
XR_937433.3:n.2057C>A