Canonical Allele Identifier: CA2499225508

Gene: ETHE1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.43511428G>A , CM000681.2:g.43511428G>A	GRCh38
NC_000019.9:g.44015580G>A , CM000681.1:g.44015580G>A	GRCh37
NC_000019.8:g.48707420G>A	NCBI36
NG_008141.1:g.20817C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_014297.5:c.505+9C>T MANE Select	NP_055112.2:n.505+9C>T
ENST00000292147.7:c.505+9C>T MANE Select	ENSP00000292147.1:n.505+9C>T
NM_001320867.1:c.472+9C>T	NP_001307796.1:n.472+9C>T
NM_001320867.2:c.472+9C>T	NP_001307796.1:n.472+9C>T
NM_001320868.1:c.136+9C>T	NP_001307797.1:n.136+9C>T
NM_001320868.2:c.136+9C>T	NP_001307797.1:n.136+9C>T
NM_001320869.1:c.211+9C>T	NP_001307798.1:n.211+9C>T
NM_001320869.2:c.211+9C>T	NP_001307798.1:n.211+9C>T
NM_014297.3:c.505+9C>T	NP_055112.2:n.505+9C>T
NM_014297.4:c.505+9C>T	NP_055112.2:n.505+9C>T
ENST00000292147.6:c.505+9C>T	ENSP00000292147.1:n.505+9C>T
ENST00000594342.5:c.*68+9C>T	ENSP00000469652.1:n.*68+9C>T
ENST00000598330.1:c.*68+9C>T	ENSP00000469219.1:n.*68+9C>T
ENST00000600651.5:c.505+9C>T	ENSP00000469037.1:n.505+9C>T
XM_005258687.2:c.424+9C>T	XP_005258744.1:n.424+9C>T
XM_005258687.4:c.424+9C>T	XP_005258744.1:n.424+9C>T
XM_005258688.2:c.136+9C>T	XP_005258745.1:n.136+9C>T
XM_011526685.1:c.227-2564C>T	XP_011524987.1:n.227-2564C>T