Canonical Allele Identifier: CA406175084

Gene: ETHE1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.43508773A>T , CM000681.2:g.43508773A>T	GRCh38
NC_000019.9:g.44012925A>T , CM000681.1:g.44012925A>T	GRCh37
NC_000019.8:g.48704765A>T	NCBI36
NG_008141.1:g.23472T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_014297.5:c.595+2T>A MANE Select	NP_055112.2:n.595+2T>A
ENST00000292147.7:c.595+2T>A MANE Select	ENSP00000292147.1:n.595+2T>A
NM_001320867.1:c.562+2T>A	NP_001307796.1:n.562+2T>A
NM_001320867.2:c.562+2T>A	NP_001307796.1:n.562+2T>A
NM_001320868.1:c.226+2T>A	NP_001307797.1:n.226+2T>A
NM_001320868.2:c.226+2T>A	NP_001307797.1:n.226+2T>A
NM_001320869.1:c.301+2T>A	NP_001307798.1:n.301+2T>A
NM_001320869.2:c.301+2T>A	NP_001307798.1:n.301+2T>A
NM_014297.3:c.595+2T>A	NP_055112.2:n.595+2T>A
NM_014297.4:c.595+2T>A	NP_055112.2:n.595+2T>A
ENST00000292147.6:c.595+2T>A	ENSP00000292147.1:n.595+2T>A
ENST00000594342.5:c.*158+2T>A	ENSP00000469652.1:n.*158+2T>A
ENST00000598330.1:c.*158+2T>A	ENSP00000469219.1:n.*158+2T>A
ENST00000600651.5:c.595+2T>A	ENSP00000469037.1:n.595+2T>A
XM_005258687.2:c.514+2T>A	XP_005258744.1:n.514+2T>A
XM_005258687.4:c.514+2T>A	XP_005258744.1:n.514+2T>A
XM_005258688.2:c.226+2T>A	XP_005258745.1:n.226+2T>A
XM_011526685.1:c.316+2T>A	XP_011524987.1:n.316+2T>A