Canonical Allele Identifier: CA9420211

Gene: ECH1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38817462C>T , CM000681.2:g.38817462C>T	GRCh38
NC_000019.9:g.39308102C>T , CM000681.1:g.39308102C>T	GRCh37
NC_000019.8:g.43999942C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_001398.3:c.463G>A MANE Select	NP_001389.2:p.Val155Ile
ENST00000221418.9:c.463G>A MANE Select	ENSP00000221418.3:p.Val155Ile
NM_001398.2:c.463G>A	NP_001389.2:p.Val155Ile
ENST00000221418.8:c.463G>A	ENSP00000221418.3:p.Val155Ile
ENST00000594164.5:c.*374G>A	ENSP00000470839.1:n.*374G>A
ENST00000595470.1:c.463G>A	ENSP00000470809.1:p.Val155Ile
ENST00000598316.5:n.445G>A
ENST00000598707.5:n.466G>A
ENST00000600178.5:n.480G>A
ENST00000601060.5:n.532G>A
ENST00000601778.5:c.452G>A
XM_017026448.1:c.223G>A	XP_016881937.1:p.Val75Ile
XM_024451408.1:c.463G>A	XP_024307176.1:p.Val155Ile
XM_024451409.1:c.223G>A	XP_024307177.1:p.Val75Ile