Canonical Allele Identifier: CA507736888

Gene: ETHE1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.43507981G>T , CM000681.2:g.43507981G>T	GRCh38
NC_000019.9:g.44012133G>T , CM000681.1:g.44012133G>T	GRCh37
NC_000019.8:g.48703973G>T	NCBI36
NG_008141.1:g.24264C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000292147.7:c.675C>A MANE Select	ENSP00000292147.1:p.Ile225=
ENST00000292147.6:c.675C>A	ENSP00000292147.1:p.Ile225=
ENST00000594342.5:c.*238C>A	ENSP00000469652.1:n.*238C>A
ENST00000598330.1:c.*238C>A	ENSP00000469219.1:n.*238C>A
ENST00000600651.5:c.675C>A	ENSP00000469037.1:p.Ile225=
NM_014297.3:c.675C>A	NP_055112.2:p.Ile225=
XM_005258687.2:c.594C>A	XP_005258744.1:p.Ile198=
XM_005258688.2:c.306C>A	XP_005258745.1:p.Ile102=
XM_011526685.1:c.396C>A	XP_011524987.1:p.Ile132=
NM_001320867.1:c.642C>A	NP_001307796.1:p.Ile214=
NM_001320868.1:c.306C>A	NP_001307797.1:p.Ile102=
NM_001320869.1:c.381C>A	NP_001307798.1:p.Ile127=
NM_014297.4:c.675C>A	NP_055112.2:p.Ile225=
XM_005258687.4:c.594C>A	XP_005258744.1:p.Ile198=
NM_014297.5:c.675C>A MANE Select	NP_055112.2:p.Ile225=
NM_001320867.2:c.642C>A	NP_001307796.1:p.Ile214=
NM_001320868.2:c.306C>A	NP_001307797.1:p.Ile102=
NM_001320869.2:c.381C>A	NP_001307798.1:p.Ile127=