Canonical Allele Identifier: CA2585520343

Gene: ETHE1

Linked Data

• gnomAD v4: 19-43508063-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.43508063A>G , CM000681.2:g.43508063A>G	GRCh38
NC_000019.9:g.44012215A>G , CM000681.1:g.44012215A>G	GRCh37
NC_000019.8:g.48704055A>G	NCBI36
NG_008141.1:g.24182T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000292147.7:c.596-3T>C MANE Select	ENSP00000292147.1:n.596-3T>C
ENST00000292147.6:c.596-3T>C	ENSP00000292147.1:n.596-3T>C
ENST00000594342.5:c.*159-3T>C	ENSP00000469652.1:n.*159-3T>C
ENST00000598330.1:c.*159-3T>C	ENSP00000469219.1:n.*159-3T>C
ENST00000600651.5:c.596-3T>C	ENSP00000469037.1:n.596-3T>C
NM_014297.3:c.596-3T>C	NP_055112.2:n.596-3T>C
XM_005258687.2:c.515-3T>C	XP_005258744.1:n.515-3T>C
XM_005258688.2:c.227-3T>C	XP_005258745.1:n.227-3T>C
XM_011526685.1:c.317-3T>C	XP_011524987.1:n.317-3T>C
NM_001320867.1:c.563-3T>C	NP_001307796.1:n.563-3T>C
NM_001320868.1:c.227-3T>C	NP_001307797.1:n.227-3T>C
NM_001320869.1:c.302-3T>C	NP_001307798.1:n.302-3T>C
NM_014297.4:c.596-3T>C	NP_055112.2:n.596-3T>C
XM_005258687.4:c.515-3T>C	XP_005258744.1:n.515-3T>C
NM_014297.5:c.596-3T>C MANE Select	NP_055112.2:n.596-3T>C
NM_001320867.2:c.563-3T>C	NP_001307796.1:n.563-3T>C
NM_001320868.2:c.227-3T>C	NP_001307797.1:n.227-3T>C
NM_001320869.2:c.302-3T>C	NP_001307798.1:n.302-3T>C