Canonical Allele Identifier: CA507737716

Gene: ETHE1 ZNF575

Linked Data

• MyVariant Identifiers: chr19:g.44030401C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.43526249C>T , CM000681.2:g.43526249C>T	GRCh38
NC_000019.9:g.44030401C>T , CM000681.1:g.44030401C>T	GRCh37
NC_000019.8:g.48722241C>T	NCBI36
NG_008141.1:g.5996G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000292147.7:c.327G>A (ETHE1) MANE Select	ENSP00000292147.1:p.Gln109=
ENST00000292147.6:c.327G>A (ETHE1)	ENSP00000292147.1:p.Gln109=
ENST00000458714.2:c.-66+11C>T (ZNF575)	ENSP00000413956.2:n.-66+11C>T
ENST00000594342.5:c.226+266G>A (ETHE1)	ENSP00000469652.1:n.226+266G>A
ENST00000595115.1:n.545G>A (ETHE1)
ENST00000598330.1:c.226+266G>A (ETHE1)	ENSP00000469219.1:n.226+266G>A
ENST00000600651.5:c.327G>A (ETHE1)	ENSP00000469037.1:p.Gln109=
ENST00000602138.1:c.*331G>A (ETHE1)	ENSP00000468964.1:n.*331G>A
NM_014297.3:c.327G>A (ETHE1)	NP_055112.2:p.Gln109=
XM_005258687.2:c.246G>A (ETHE1)	XP_005258744.1:p.Gln82=
XM_005258688.2:c.6+266G>A (ETHE1)	XP_005258745.1:n.6+266G>A
XM_011526685.1:c.226+266G>A (ETHE1)	XP_011524987.1:n.226+266G>A
NM_001320867.1:c.294G>A (ETHE1)	NP_001307796.1:p.Gln98=
NM_001320868.1:c.6+266G>A (ETHE1)	NP_001307797.1:n.6+266G>A
NM_001320869.1:c.81+848G>A (ETHE1)	NP_001307798.1:n.81+848G>A
NM_014297.4:c.327G>A (ETHE1)	NP_055112.2:p.Gln109=
XM_005258687.4:c.246G>A (ETHE1)	XP_005258744.1:p.Gln82=
NM_014297.5:c.327G>A (ETHE1) MANE Select	NP_055112.2:p.Gln109=
NM_001320867.2:c.294G>A (ETHE1)	NP_001307796.1:p.Gln98=
NM_001320868.2:c.6+266G>A (ETHE1)	NP_001307797.1:n.6+266G>A
NM_001320869.2:c.81+848G>A (ETHE1)	NP_001307798.1:n.81+848G>A