Canonical Allele Identifier: CA406175112

Gene: ETHE1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.43508784C>G , CM000681.2:g.43508784C>G	GRCh38
NC_000019.9:g.44012936C>G , CM000681.1:g.44012936C>G	GRCh37
NC_000019.8:g.48704776C>G	NCBI36
NG_008141.1:g.23461G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_014297.5:c.586G>C MANE Select	NP_055112.2:p.Asp196His
ENST00000292147.7:c.586G>C MANE Select	ENSP00000292147.1:p.Asp196His
NM_001320867.1:c.553G>C	NP_001307796.1:p.Asp185His
NM_001320867.2:c.553G>C	NP_001307796.1:p.Asp185His
NM_001320868.1:c.217G>C	NP_001307797.1:p.Asp73His
NM_001320868.2:c.217G>C	NP_001307797.1:p.Asp73His
NM_001320869.1:c.292G>C	NP_001307798.1:p.Asp98His
NM_001320869.2:c.292G>C	NP_001307798.1:p.Asp98His
NM_014297.3:c.586G>C	NP_055112.2:p.Asp196His
NM_014297.4:c.586G>C	NP_055112.2:p.Asp196His
ENST00000292147.6:c.586G>C	ENSP00000292147.1:p.Asp196His
ENST00000594342.5:c.*149G>C	ENSP00000469652.1:n.*149G>C
ENST00000598330.1:c.*149G>C	ENSP00000469219.1:n.*149G>C
ENST00000600651.5:c.586G>C	ENSP00000469037.1:p.Asp196His
XM_005258687.2:c.505G>C	XP_005258744.1:p.Asp169His
XM_005258687.4:c.505G>C	XP_005258744.1:p.Asp169His
XM_005258688.2:c.217G>C	XP_005258745.1:p.Asp73His
XM_011526685.1:c.307G>C	XP_011524987.1:p.Asp103His