Canonical Allele Identifier: CA3122680

Gene: ETFDH

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.158706817T>C , CM000666.2:g.158706817T>C	GRCh38
NC_000004.11:g.159627969T>C , CM000666.1:g.159627969T>C	GRCh37
NC_000004.10:g.159847419T>C	NCBI36
NG_007078.2:g.39476T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_004453.4:c.1657T>C MANE Select	NP_004444.2:p.Tyr553His
ENST00000511912.6:c.1657T>C MANE Select	ENSP00000426638.1:p.Tyr553His
NM_001281737.1:c.1516T>C	NP_001268666.1:p.Tyr506His
NM_001281737.2:c.1516T>C	NP_001268666.1:p.Tyr506His
NM_001281738.1:c.1474T>C	NP_001268667.1:p.Tyr492His
NM_004453.3:c.1657T>C	NP_004444.2:p.Tyr553His
ENST00000307738.5:c.1516T>C	ENSP00000303552.5:p.Tyr506His
ENST00000506422.1:n.627T>C
ENST00000511912.5:c.1657T>C	ENSP00000426638.1:p.Tyr553His
ENST00000681978.1:n.3193T>C
ENST00000682178.1:n.2689T>C
ENST00000682345.1:c.*1357T>C	ENSP00000508122.1:n.*1357T>C
ENST00000682452.1:n.1988T>C
ENST00000682456.1:c.1516T>C	ENSP00000508240.1:p.Tyr506His
ENST00000682566.1:n.2440T>C
ENST00000682613.1:n.1969T>C
ENST00000682734.1:c.484T>C	ENSP00000507860.1:p.Tyr162His
ENST00000682820.1:n.1694T>C
ENST00000683004.1:c.*1350T>C	ENSP00000506936.1:n.*1350T>C
ENST00000683079.1:c.*1082T>C	ENSP00000507296.1:n.*1082T>C
ENST00000683081.1:c.*1494T>C	ENSP00000507722.1:n.*1494T>C
ENST00000683181.1:n.936T>C
ENST00000683209.1:n.3983T>C
ENST00000683305.1:c.1474T>C	ENSP00000508043.1:p.Tyr492His
ENST00000683448.1:c.*577T>C	ENSP00000506931.1:n.*577T>C
ENST00000683478.1:c.*1008T>C	ENSP00000507793.1:n.*1008T>C
ENST00000683483.1:c.1513T>C	ENSP00000507719.1:p.Tyr505His
ENST00000683622.1:n.1371T>C
ENST00000683751.1:c.1162T>C	ENSP00000506944.1:p.Tyr388His
ENST00000684036.1:c.1474T>C	ENSP00000507276.1:p.Tyr492His
ENST00000684129.1:c.484T>C	ENSP00000507174.1:p.Tyr162His
ENST00000684209.1:n.2032T>C
ENST00000684296.1:c.*577T>C	ENSP00000507740.1:n.*577T>C
ENST00000684505.1:c.1606T>C	ENSP00000508237.1:p.Tyr536His
ENST00000684552.1:c.*3076T>C	ENSP00000506899.1:n.*3076T>C
ENST00000684611.1:n.3385T>C
ENST00000684622.1:c.1657T>C	ENSP00000507546.1:p.Tyr553His
ENST00000684627.1:c.1474T>C	ENSP00000507471.1:p.Tyr492His
ENST00000684641.1:c.1372T>C	ENSP00000507642.1:p.Tyr458His
ENST00000684675.1:c.*504T>C	ENSP00000506934.1:n.*504T>C
ENST00000684749.1:n.1726T>C
XM_024453935.1:c.1474T>C	XP_024309703.1:p.Tyr492His