Canonical Allele Identifier: CA358564115

Gene: ETFDH

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.158706291G>A , CM000666.2:g.158706291G>A	GRCh38
NC_000004.11:g.159627443G>A , CM000666.1:g.159627443G>A	GRCh37
NC_000004.10:g.159846893G>A	NCBI36
NG_007078.2:g.38950G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004453.4:c.1388G>A MANE Select	NP_004444.2:p.Gly463Asp
ENST00000511912.6:c.1388G>A MANE Select	ENSP00000426638.1:p.Gly463Asp
NM_001281737.1:c.1247G>A	NP_001268666.1:p.Gly416Asp
NM_001281737.2:c.1247G>A	NP_001268666.1:p.Gly416Asp
NM_001281738.1:c.1205G>A	NP_001268667.1:p.Gly402Asp
NM_004453.3:c.1388G>A	NP_004444.2:p.Gly463Asp
ENST00000307738.5:c.1247G>A	ENSP00000303552.5:p.Gly416Asp
ENST00000506422.1:n.358G>A
ENST00000511912.5:c.1388G>A	ENSP00000426638.1:p.Gly463Asp
ENST00000681978.1:n.2924G>A
ENST00000682178.1:n.2420G>A
ENST00000682345.1:c.*1088G>A	ENSP00000508122.1:n.*1088G>A
ENST00000682452.1:n.1719G>A
ENST00000682456.1:c.1247G>A	ENSP00000508240.1:p.Gly416Asp
ENST00000682566.1:n.2171G>A
ENST00000682613.1:n.1700G>A
ENST00000682734.1:c.215G>A	ENSP00000507860.1:p.Gly72Asp
ENST00000682820.1:n.1425G>A
ENST00000683004.1:c.*1081G>A	ENSP00000506936.1:n.*1081G>A
ENST00000683079.1:c.*813G>A	ENSP00000507296.1:n.*813G>A
ENST00000683081.1:c.*1225G>A	ENSP00000507722.1:n.*1225G>A
ENST00000683181.1:n.667G>A
ENST00000683209.1:n.3714G>A
ENST00000683305.1:c.1205G>A	ENSP00000508043.1:p.Gly402Asp
ENST00000683448.1:c.*308G>A	ENSP00000506931.1:n.*308G>A
ENST00000683478.1:c.*739G>A	ENSP00000507793.1:n.*739G>A
ENST00000683483.1:c.1244G>A	ENSP00000507719.1:p.Gly415Asp
ENST00000683622.1:n.1102G>A
ENST00000683751.1:c.893G>A	ENSP00000506944.1:p.Gly298Asp
ENST00000684036.1:c.1205G>A	ENSP00000507276.1:p.Gly402Asp
ENST00000684129.1:c.215G>A	ENSP00000507174.1:p.Gly72Asp
ENST00000684209.1:n.1763G>A
ENST00000684296.1:c.*308G>A	ENSP00000507740.1:n.*308G>A
ENST00000684505.1:c.1337G>A	ENSP00000508237.1:p.Gly446Asp
ENST00000684552.1:c.*2807G>A	ENSP00000506899.1:n.*2807G>A
ENST00000684611.1:n.3116G>A
ENST00000684622.1:c.1388G>A	ENSP00000507546.1:p.Gly463Asp
ENST00000684627.1:c.1205G>A	ENSP00000507471.1:p.Gly402Asp
ENST00000684641.1:c.1103G>A	ENSP00000507642.1:p.Gly368Asp
ENST00000684675.1:c.*235G>A	ENSP00000506934.1:n.*235G>A
ENST00000684749.1:n.1457G>A
XM_024453935.1:c.1205G>A	XP_024309703.1:p.Gly402Asp