Canonical Allele Identifier: CA358574003

Gene: ETFDH

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.158682263T>C , CM000666.2:g.158682263T>C	GRCh38
NC_000004.11:g.159603415T>C , CM000666.1:g.159603415T>C	GRCh37
NC_000004.10:g.159822865T>C	NCBI36
NG_007078.2:g.14922T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_004453.4:c.244T>C MANE Select	NP_004444.2:p.Ser82Pro
ENST00000511912.6:c.244T>C MANE Select	ENSP00000426638.1:p.Ser82Pro
NM_001281737.1:c.103T>C	NP_001268666.1:p.Ser35Pro
NM_001281737.2:c.103T>C	NP_001268666.1:p.Ser35Pro
NM_001281738.1:c.61T>C	NP_001268667.1:p.Ser21Pro
NM_004453.3:c.244T>C	NP_004444.2:p.Ser82Pro
ENST00000307738.5:c.103T>C	ENSP00000303552.5:p.Ser35Pro
ENST00000436096.2:n.429T>C
ENST00000436096.3:n.495T>C
ENST00000506422.1:n.86+9773T>C
ENST00000507475.5:c.-90-2329T>C	ENSP00000422735.1:n.-90-2329T>C
ENST00000507475.6:n.179-2329T>C
ENST00000511912.5:c.244T>C	ENSP00000426638.1:p.Ser82Pro
ENST00000514148.1:n.322T>C
ENST00000681978.1:n.493T>C
ENST00000682178.1:n.1276T>C
ENST00000682345.1:c.*63T>C	ENSP00000508122.1:n.*63T>C
ENST00000682409.1:n.1940T>C
ENST00000682452.1:n.575T>C
ENST00000682456.1:c.244T>C	ENSP00000508240.1:p.Ser82Pro
ENST00000682601.1:n.435T>C
ENST00000682734.1:c.-649-2329T>C	ENSP00000507860.1:n.-649-2329T>C
ENST00000682820.1:n.281T>C
ENST00000682910.1:n.551T>C
ENST00000683004.1:c.*81T>C	ENSP00000506936.1:n.*81T>C
ENST00000683079.1:c.244T>C	ENSP00000507296.1:p.Ser82Pro
ENST00000683081.1:c.*81T>C	ENSP00000507722.1:n.*81T>C
ENST00000683305.1:c.61T>C	ENSP00000508043.1:p.Ser21Pro
ENST00000683448.1:c.-90-2329T>C	ENSP00000506931.1:n.-90-2329T>C
ENST00000683478.1:c.244T>C	ENSP00000507793.1:p.Ser82Pro
ENST00000683483.1:c.244T>C	ENSP00000507719.1:p.Ser82Pro
ENST00000683750.1:n.367T>C
ENST00000683751.1:c.-90-2329T>C	ENSP00000506944.1:n.-90-2329T>C
ENST00000683799.1:n.1560T>C
ENST00000684036.1:c.61T>C	ENSP00000507276.1:p.Ser21Pro
ENST00000684129.1:c.-694-2329T>C	ENSP00000507174.1:n.-694-2329T>C
ENST00000684209.1:n.484T>C
ENST00000684296.1:c.244T>C	ENSP00000507740.1:p.Ser82Pro
ENST00000684505.1:c.244T>C	ENSP00000508237.1:p.Ser82Pro
ENST00000684552.1:c.244T>C	ENSP00000506899.1:p.Ser82Pro
ENST00000684611.1:n.1972T>C
ENST00000684622.1:c.244T>C	ENSP00000507546.1:p.Ser82Pro
ENST00000684627.1:c.61T>C	ENSP00000507471.1:p.Ser21Pro
ENST00000684641.1:c.244T>C	ENSP00000507642.1:p.Ser82Pro
ENST00000684675.1:c.244T>C	ENSP00000506934.1:p.Ser82Pro
ENST00000684749.1:n.313T>C
XM_024453935.1:c.61T>C	XP_024309703.1:p.Ser21Pro