Canonical Allele Identifier: CA2337539020

Gene: ETHE1 ZNF575

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.43526281G= , CM000681.2:g.43526281G=	GRCh38
NC_000019.9:g.44030433G= , CM000681.1:g.44030433G=	GRCh37
NC_000019.8:g.48722273G=	NCBI36
NG_008141.1:g.5964C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000292147.7:c.295C= (ETHE1) MANE Select	ENSP00000292147.1:p.Gln99=
ENST00000292147.6:c.295C= (ETHE1)	ENSP00000292147.1:p.Gln99=
ENST00000458714.2:c.-66+43G= (ZNF575)	ENSP00000413956.2:n.-66+43G=
ENST00000594342.5:c.226+234C= (ETHE1)	ENSP00000469652.1:n.226+234C=
ENST00000595115.1:n.513C= (ETHE1)
ENST00000598330.1:c.226+234C= (ETHE1)	ENSP00000469219.1:n.226+234C=
ENST00000600651.5:c.295C= (ETHE1)	ENSP00000469037.1:p.Gln99=
ENST00000602138.1:c.*299C= (ETHE1)	ENSP00000468964.1:n.*299C=
NM_014297.3:c.295C= (ETHE1)	NP_055112.2:p.Gln99=
XM_005258687.2:c.214C= (ETHE1)	XP_005258744.1:p.Gln72=
XM_005258688.2:c.6+234C= (ETHE1)	XP_005258745.1:n.6+234C=
XM_011526685.1:c.226+234C= (ETHE1)	XP_011524987.1:n.226+234C=
NM_001320867.1:c.262C= (ETHE1)	NP_001307796.1:p.Gln88=
NM_001320868.1:c.6+234C= (ETHE1)	NP_001307797.1:n.6+234C=
NM_001320869.1:c.81+816C= (ETHE1)	NP_001307798.1:n.81+816C=
NM_014297.4:c.295C= (ETHE1)	NP_055112.2:p.Gln99=
XM_005258687.4:c.214C= (ETHE1)	XP_005258744.1:p.Gln72=
NM_014297.5:c.295C= (ETHE1) MANE Select	NP_055112.2:p.Gln99=
NM_001320867.2:c.262C= (ETHE1)	NP_001307796.1:p.Gln88=
NM_001320868.2:c.6+234C= (ETHE1)	NP_001307797.1:n.6+234C=
NM_001320869.2:c.81+816C= (ETHE1)	NP_001307798.1:n.81+816C=