Canonical Allele Identifier: CA406175720

Gene: ETHE1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.43511568T>C , CM000681.2:g.43511568T>C	GRCh38
NC_000019.9:g.44015720T>C , CM000681.1:g.44015720T>C	GRCh37
NC_000019.8:g.48707560T>C	NCBI36
NG_008141.1:g.20677A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_014297.5:c.376-2A>G MANE Select	NP_055112.2:n.376-2A>G
ENST00000292147.7:c.376-2A>G MANE Select	ENSP00000292147.1:n.376-2A>G
NM_001320867.1:c.343-2A>G	NP_001307796.1:n.343-2A>G
NM_001320867.2:c.343-2A>G	NP_001307796.1:n.343-2A>G
NM_001320868.1:c.7-2A>G	NP_001307797.1:n.7-2A>G
NM_001320868.2:c.7-2A>G	NP_001307797.1:n.7-2A>G
NM_001320869.1:c.82-2A>G	NP_001307798.1:n.82-2A>G
NM_001320869.2:c.82-2A>G	NP_001307798.1:n.82-2A>G
NM_014297.3:c.376-2A>G	NP_055112.2:n.376-2A>G
NM_014297.4:c.376-2A>G	NP_055112.2:n.376-2A>G
ENST00000292147.6:c.376-2A>G	ENSP00000292147.1:n.376-2A>G
ENST00000594342.5:c.227-2A>G	ENSP00000469652.1:n.227-2A>G
ENST00000598330.1:c.227-2A>G	ENSP00000469219.1:n.227-2A>G
ENST00000600651.5:c.376-2A>G	ENSP00000469037.1:n.376-2A>G
ENST00000602138.1:c.*380-2A>G	ENSP00000468964.1:n.*380-2A>G
XM_005258687.2:c.295-2A>G	XP_005258744.1:n.295-2A>G
XM_005258687.4:c.295-2A>G	XP_005258744.1:n.295-2A>G
XM_005258688.2:c.7-2A>G	XP_005258745.1:n.7-2A>G
XM_011526685.1:c.227-2704A>G	XP_011524987.1:n.227-2704A>G