Canonical Allele Identifier: CA507737731

Gene: ETHE1 ZNF575

Linked Data

• MyVariant Identifiers: chr19:g.44030419G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.43526267G>C , CM000681.2:g.43526267G>C	GRCh38
NC_000019.9:g.44030419G>C , CM000681.1:g.44030419G>C	GRCh37
NC_000019.8:g.48722259G>C	NCBI36
NG_008141.1:g.5978C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000292147.7:c.309C>G (ETHE1) MANE Select	ENSP00000292147.1:p.Ser103=
ENST00000292147.6:c.309C>G (ETHE1)	ENSP00000292147.1:p.Ser103=
ENST00000458714.2:c.-66+29G>C (ZNF575)	ENSP00000413956.2:n.-66+29G>C
ENST00000594342.5:c.226+248C>G (ETHE1)	ENSP00000469652.1:n.226+248C>G
ENST00000595115.1:n.527C>G (ETHE1)
ENST00000598330.1:c.226+248C>G (ETHE1)	ENSP00000469219.1:n.226+248C>G
ENST00000600651.5:c.309C>G (ETHE1)	ENSP00000469037.1:p.Ser103=
ENST00000602138.1:c.*313C>G (ETHE1)	ENSP00000468964.1:n.*313C>G
NM_014297.3:c.309C>G (ETHE1)	NP_055112.2:p.Ser103=
XM_005258687.2:c.228C>G (ETHE1)	XP_005258744.1:p.Ser76=
XM_005258688.2:c.6+248C>G (ETHE1)	XP_005258745.1:n.6+248C>G
XM_011526685.1:c.226+248C>G (ETHE1)	XP_011524987.1:n.226+248C>G
NM_001320867.1:c.276C>G (ETHE1)	NP_001307796.1:p.Ser92=
NM_001320868.1:c.6+248C>G (ETHE1)	NP_001307797.1:n.6+248C>G
NM_001320869.1:c.81+830C>G (ETHE1)	NP_001307798.1:n.81+830C>G
NM_014297.4:c.309C>G (ETHE1)	NP_055112.2:p.Ser103=
XM_005258687.4:c.228C>G (ETHE1)	XP_005258744.1:p.Ser76=
NM_014297.5:c.309C>G (ETHE1) MANE Select	NP_055112.2:p.Ser103=
NM_001320867.2:c.276C>G (ETHE1)	NP_001307796.1:p.Ser92=
NM_001320868.2:c.6+248C>G (ETHE1)	NP_001307797.1:n.6+248C>G
NM_001320869.2:c.81+830C>G (ETHE1)	NP_001307798.1:n.81+830C>G