Canonical Allele Identifier: CA9487928

Gene: ETHE1 ZNF575

Linked Data

• dbSNP Id: rs192019064
• ExAC: 19:44030685 G / A
• gnomAD v2: 19-44030685-G-A
• gnomAD v3: 19-43526533-G-A
• gnomAD v4: 19-43526533-G-A
• MyVariant Identifiers: chr19:g.44030685G>A (hg19) ; chr19:g.44030685_44030688delinsACCC (hg19) ; chr19:g.43526533G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.43526533G>A , CM000681.2:g.43526533G>A	GRCh38
NC_000019.9:g.44030685G>A , CM000681.1:g.44030685G>A	GRCh37
NC_000019.8:g.48722525G>A	NCBI36
NG_008141.1:g.5712C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000292147.7:c.208C>T (ETHE1) MANE Select	ENSP00000292147.1:p.Leu70=
ENST00000292147.6:c.208C>T (ETHE1)	ENSP00000292147.1:p.Leu70=
ENST00000458714.2:c.42G>A (ZNF575)	ENSP00000413956.2:p.Gln14=
ENST00000594342.5:c.208C>T (ETHE1)	ENSP00000469652.1:p.Leu70=
ENST00000595115.1:n.261C>T (ETHE1)
ENST00000598330.1:c.208C>T (ETHE1)	ENSP00000469219.1:p.Leu70=
ENST00000600651.5:c.208C>T (ETHE1)	ENSP00000469037.1:p.Leu70=
ENST00000602138.1:c.*212C>T (ETHE1)	ENSP00000468964.1:n.*212C>T
NM_014297.3:c.208C>T (ETHE1)	NP_055112.2:p.Leu70=
XM_005258687.2:c.127C>T (ETHE1)	XP_005258744.1:p.Leu43=
XM_005258688.2:c.-13C>T (ETHE1)	XP_005258745.1:n.-13C>T
XM_011526685.1:c.208C>T (ETHE1)	XP_011524987.1:p.Leu70=
NM_001320867.1:c.208C>T (ETHE1)	NP_001307796.1:p.Leu70=
NM_001320868.1:c.-13C>T (ETHE1)	NP_001307797.1:n.-13C>T
NM_001320869.1:c.81+564C>T (ETHE1)	NP_001307798.1:n.81+564C>T
NM_014297.4:c.208C>T (ETHE1)	NP_055112.2:p.Leu70=
XM_005258687.4:c.127C>T (ETHE1)	XP_005258744.1:p.Leu43=
NM_014297.5:c.208C>T (ETHE1) MANE Select	NP_055112.2:p.Leu70=
NM_001320867.2:c.208C>T (ETHE1)	NP_001307796.1:p.Leu70=
NM_001320868.2:c.-13C>T (ETHE1)	NP_001307797.1:n.-13C>T
NM_001320869.2:c.81+564C>T (ETHE1)	NP_001307798.1:n.81+564C>T