Canonical Allele Identifier: CA10652050

Gene: ETHE1

Linked Data

• ClinVar Variation Id: 329441
• ClinVar RCV Id: RCV000355087
• dbSNP Id: rs886054479
• MyVariant Identifiers: chr19:g.44015723C>G (hg19) ; chr19:g.43511571C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.43511571C>G , CM000681.2:g.43511571C>G	GRCh38
NC_000019.9:g.44015723C>G , CM000681.1:g.44015723C>G	GRCh37
NC_000019.8:g.48707563C>G	NCBI36
NG_008141.1:g.20674G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000292147.7:c.376-5G>C MANE Select	ENSP00000292147.1:n.376-5G>C
ENST00000292147.6:c.376-5G>C	ENSP00000292147.1:n.376-5G>C
ENST00000594342.5:c.227-5G>C	ENSP00000469652.1:n.227-5G>C
ENST00000598330.1:c.227-5G>C	ENSP00000469219.1:n.227-5G>C
ENST00000600651.5:c.376-5G>C	ENSP00000469037.1:n.376-5G>C
ENST00000602138.1:c.*380-5G>C	ENSP00000468964.1:n.*380-5G>C
NM_014297.3:c.376-5G>C	NP_055112.2:n.376-5G>C
XM_005258687.2:c.295-5G>C	XP_005258744.1:n.295-5G>C
XM_005258688.2:c.7-5G>C	XP_005258745.1:n.7-5G>C
XM_011526685.1:c.227-2707G>C	XP_011524987.1:n.227-2707G>C
NM_001320867.1:c.343-5G>C	NP_001307796.1:n.343-5G>C
NM_001320868.1:c.7-5G>C	NP_001307797.1:n.7-5G>C
NM_001320869.1:c.82-5G>C	NP_001307798.1:n.82-5G>C
NM_014297.4:c.376-5G>C	NP_055112.2:n.376-5G>C
XM_005258687.4:c.295-5G>C	XP_005258744.1:n.295-5G>C
NM_014297.5:c.376-5G>C MANE Select	NP_055112.2:n.376-5G>C
NM_001320867.2:c.343-5G>C	NP_001307796.1:n.343-5G>C
NM_001320868.2:c.7-5G>C	NP_001307797.1:n.7-5G>C
NM_001320869.2:c.82-5G>C	NP_001307798.1:n.82-5G>C