Canonical Allele Identifier: CA406175476

Gene: ETHE1

Linked Data

• ClinVar Variation Id: 504500
• ClinVar RCV Id: RCV000599431
• dbSNP Id: rs28940289
• MyVariant Identifiers: chr19:g.44015607G>C (hg19) ; chr19:g.43511455G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.43511455G>C , CM000681.2:g.43511455G>C	GRCh38
NC_000019.9:g.44015607G>C , CM000681.1:g.44015607G>C	GRCh37
NC_000019.8:g.48707447G>C	NCBI36
NG_008141.1:g.20790C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000292147.7:c.487C>G MANE Select	ENSP00000292147.1:p.Arg163Gly
ENST00000292147.6:c.487C>G	ENSP00000292147.1:p.Arg163Gly
ENST00000594342.5:c.*50C>G	ENSP00000469652.1:n.*50C>G
ENST00000598330.1:c.*50C>G	ENSP00000469219.1:n.*50C>G
ENST00000600651.5:c.487C>G	ENSP00000469037.1:p.Arg163Gly
NM_014297.3:c.487C>G	NP_055112.2:p.Arg163Gly
XM_005258687.2:c.406C>G	XP_005258744.1:p.Arg136Gly
XM_005258688.2:c.118C>G	XP_005258745.1:p.Arg40Gly
XM_011526685.1:c.227-2591C>G	XP_011524987.1:n.227-2591C>G
NM_001320867.1:c.454C>G	NP_001307796.1:p.Arg152Gly
NM_001320868.1:c.118C>G	NP_001307797.1:p.Arg40Gly
NM_001320869.1:c.193C>G	NP_001307798.1:p.Arg65Gly
NM_014297.4:c.487C>G	NP_055112.2:p.Arg163Gly
XM_005258687.4:c.406C>G	XP_005258744.1:p.Arg136Gly
NM_014297.5:c.487C>G MANE Select	NP_055112.2:p.Arg163Gly
NM_001320867.2:c.454C>G	NP_001307796.1:p.Arg152Gly
NM_001320868.2:c.118C>G	NP_001307797.1:p.Arg40Gly
NM_001320869.2:c.193C>G	NP_001307798.1:p.Arg65Gly