Canonical Allele Identifier: CA9487943

Gene: ETHE1 ZNF575

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.43526626G>C , CM000681.2:g.43526626G>C	GRCh38
NC_000019.9:g.44030778G>C , CM000681.1:g.44030778G>C	GRCh37
NC_000019.8:g.48722618G>C	NCBI36
NG_008141.1:g.5619C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_014297.5:c.115C>G (ETHE1) MANE Select	NP_055112.2:p.Leu39Val
ENST00000292147.7:c.115C>G (ETHE1) MANE Select	ENSP00000292147.1:p.Leu39Val
NM_001320867.1:c.115C>G (ETHE1)	NP_001307796.1:p.Leu39Val
NM_001320867.2:c.115C>G (ETHE1)	NP_001307796.1:p.Leu39Val
NM_001320868.1:c.-106C>G (ETHE1)	NP_001307797.1:n.-106C>G
NM_001320868.2:c.-106C>G (ETHE1)	NP_001307797.1:n.-106C>G
NM_001320869.1:c.81+471C>G (ETHE1)	NP_001307798.1:n.81+471C>G
NM_001320869.2:c.81+471C>G (ETHE1)	NP_001307798.1:n.81+471C>G
NM_014297.3:c.115C>G (ETHE1)	NP_055112.2:p.Leu39Val
NM_014297.4:c.115C>G (ETHE1)	NP_055112.2:p.Leu39Val
ENST00000292147.6:c.115C>G (ETHE1)	ENSP00000292147.1:p.Leu39Val
ENST00000458714.2:c.135G>C (ZNF575)	ENSP00000413956.2:p.Gln45His
ENST00000594342.5:c.115C>G (ETHE1)	ENSP00000469652.1:p.Leu39Val
ENST00000595115.1:n.168C>G (ETHE1)
ENST00000598330.1:c.115C>G (ETHE1)	ENSP00000469219.1:p.Leu39Val
ENST00000600651.5:c.115C>G (ETHE1)	ENSP00000469037.1:p.Leu39Val
ENST00000602138.1:c.*119C>G (ETHE1)	ENSP00000468964.1:n.*119C>G
XM_005258687.2:c.34C>G (ETHE1)	XP_005258744.1:p.Leu12Val
XM_005258687.4:c.34C>G (ETHE1)	XP_005258744.1:p.Leu12Val
XM_005258688.2:c.-106C>G (ETHE1)	XP_005258745.1:n.-106C>G
XM_011526685.1:c.115C>G (ETHE1)	XP_011524987.1:p.Leu39Val