Canonical Allele Identifier: CA358566957

Gene: ETFDH

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.158708507C>A , CM000666.2:g.158708507C>A	GRCh38
NC_000004.11:g.159629659C>A , CM000666.1:g.159629659C>A	GRCh37
NC_000004.10:g.159849109C>A	NCBI36
NG_007078.2:g.41166C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004453.4:c.1834C>A MANE Select	NP_004444.2:p.Pro612Thr
ENST00000511912.6:c.1834C>A MANE Select	ENSP00000426638.1:p.Pro612Thr
NM_001281737.1:c.1693C>A	NP_001268666.1:p.Pro565Thr
NM_001281737.2:c.1693C>A	NP_001268666.1:p.Pro565Thr
NM_001281738.1:c.1651C>A	NP_001268667.1:p.Pro551Thr
NM_004453.3:c.1834C>A	NP_004444.2:p.Pro612Thr
ENST00000307738.5:c.1693C>A	ENSP00000303552.5:p.Pro565Thr
ENST00000506422.1:n.804C>A
ENST00000511912.5:c.1834C>A	ENSP00000426638.1:p.Pro612Thr
ENST00000681978.1:n.3370C>A
ENST00000682178.1:n.2866C>A
ENST00000682345.1:c.*1534C>A	ENSP00000508122.1:n.*1534C>A
ENST00000682452.1:n.2165C>A
ENST00000682456.1:c.1693C>A	ENSP00000508240.1:p.Pro565Thr
ENST00000682566.1:n.2617C>A
ENST00000682613.1:n.2146C>A
ENST00000682734.1:c.661C>A	ENSP00000507860.1:p.Pro221Thr
ENST00000682820.1:n.1871C>A
ENST00000683004.1:c.*1527C>A	ENSP00000506936.1:n.*1527C>A
ENST00000683079.1:c.*1259C>A	ENSP00000507296.1:n.*1259C>A
ENST00000683081.1:c.*1671C>A	ENSP00000507722.1:n.*1671C>A
ENST00000683181.1:n.1113C>A
ENST00000683209.1:n.4160C>A
ENST00000683305.1:c.1651C>A	ENSP00000508043.1:p.Pro551Thr
ENST00000683448.1:c.*754C>A	ENSP00000506931.1:n.*754C>A
ENST00000683478.1:c.*1185C>A	ENSP00000507793.1:n.*1185C>A
ENST00000683483.1:c.1690C>A	ENSP00000507719.1:p.Pro564Thr
ENST00000683622.1:n.3061C>A
ENST00000683751.1:c.1339C>A	ENSP00000506944.1:p.Pro447Thr
ENST00000684036.1:c.1651C>A	ENSP00000507276.1:p.Pro551Thr
ENST00000684129.1:c.661C>A	ENSP00000507174.1:p.Pro221Thr
ENST00000684209.1:n.2209C>A
ENST00000684296.1:c.*754C>A	ENSP00000507740.1:n.*754C>A
ENST00000684505.1:c.1783C>A	ENSP00000508237.1:p.Pro595Thr
ENST00000684552.1:c.*3253C>A	ENSP00000506899.1:n.*3253C>A
ENST00000684611.1:n.3562C>A
ENST00000684627.1:c.1651C>A	ENSP00000507471.1:p.Pro551Thr
ENST00000684641.1:c.1549C>A	ENSP00000507642.1:p.Pro517Thr
ENST00000684675.1:c.*681C>A	ENSP00000506934.1:n.*681C>A
ENST00000684749.1:n.1903C>A
XM_024453935.1:c.1651C>A	XP_024309703.1:p.Pro551Thr