Canonical Allele Identifier: CA9487782

Gene: ETHE1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.43507961G>A , CM000681.2:g.43507961G>A	GRCh38
NC_000019.9:g.44012113G>A , CM000681.1:g.44012113G>A	GRCh37
NC_000019.8:g.48703953G>A	NCBI36
NG_008141.1:g.24284C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_014297.5:c.695C>T MANE Select	NP_055112.2:p.Pro232Leu
ENST00000292147.7:c.695C>T MANE Select	ENSP00000292147.1:p.Pro232Leu
NM_001320867.1:c.662C>T	NP_001307796.1:p.Pro221Leu
NM_001320867.2:c.662C>T	NP_001307796.1:p.Pro221Leu
NM_001320868.1:c.326C>T	NP_001307797.1:p.Pro109Leu
NM_001320868.2:c.326C>T	NP_001307797.1:p.Pro109Leu
NM_001320869.1:c.401C>T	NP_001307798.1:p.Pro134Leu
NM_001320869.2:c.401C>T	NP_001307798.1:p.Pro134Leu
NM_014297.3:c.695C>T	NP_055112.2:p.Pro232Leu
NM_014297.4:c.695C>T	NP_055112.2:p.Pro232Leu
ENST00000292147.6:c.695C>T	ENSP00000292147.1:p.Pro232Leu
ENST00000594342.5:c.*258C>T	ENSP00000469652.1:n.*258C>T
ENST00000598330.1:c.*258C>T	ENSP00000469219.1:n.*258C>T
ENST00000600651.5:c.695C>T	ENSP00000469037.1:p.Pro232Leu
XM_005258687.2:c.614C>T	XP_005258744.1:p.Pro205Leu
XM_005258687.4:c.614C>T	XP_005258744.1:p.Pro205Leu
XM_005258688.2:c.326C>T	XP_005258745.1:p.Pro109Leu
XM_011526685.1:c.416C>T	XP_011524987.1:p.Pro139Leu