Canonical Allele Identifier: CA633259159

Gene: ETHE1

Linked Data

• ClinVar Variation Id: 2869801
• ClinVar RCV Id: RCV003602663
• dbSNP Id: rs1368143349
• gnomAD v2: 19-44012229-G-A
• gnomAD v4: 19-43508077-G-A
• MyVariant Identifiers: chr19:g.44012229G>A (hg19) ; chr19:g.43508077G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.43508077G>A , CM000681.2:g.43508077G>A	GRCh38
NC_000019.9:g.44012229G>A , CM000681.1:g.44012229G>A	GRCh37
NC_000019.8:g.48704069G>A	NCBI36
NG_008141.1:g.24168C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000292147.7:c.596-17C>T MANE Select	ENSP00000292147.1:n.596-17C>T
ENST00000292147.6:c.596-17C>T	ENSP00000292147.1:n.596-17C>T
ENST00000594342.5:c.*159-17C>T	ENSP00000469652.1:n.*159-17C>T
ENST00000598330.1:c.*159-17C>T	ENSP00000469219.1:n.*159-17C>T
ENST00000600651.5:c.596-17C>T	ENSP00000469037.1:n.596-17C>T
NM_014297.3:c.596-17C>T	NP_055112.2:n.596-17C>T
XM_005258687.2:c.515-17C>T	XP_005258744.1:n.515-17C>T
XM_005258688.2:c.227-17C>T	XP_005258745.1:n.227-17C>T
XM_011526685.1:c.317-17C>T	XP_011524987.1:n.317-17C>T
NM_001320867.1:c.563-17C>T	NP_001307796.1:n.563-17C>T
NM_001320868.1:c.227-17C>T	NP_001307797.1:n.227-17C>T
NM_001320869.1:c.302-17C>T	NP_001307798.1:n.302-17C>T
NM_014297.4:c.596-17C>T	NP_055112.2:n.596-17C>T
XM_005258687.4:c.515-17C>T	XP_005258744.1:n.515-17C>T
NM_014297.5:c.596-17C>T MANE Select	NP_055112.2:n.596-17C>T
NM_001320867.2:c.563-17C>T	NP_001307796.1:n.563-17C>T
NM_001320868.2:c.227-17C>T	NP_001307797.1:n.227-17C>T
NM_001320869.2:c.302-17C>T	NP_001307798.1:n.302-17C>T