Canonical Allele Identifier: CA11049025

Gene: ECEL1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232482141C>T , CM000664.2:g.232482141C>T	GRCh38
NC_000002.11:g.233346851C>T , CM000664.1:g.233346851C>T	GRCh37
NC_000002.10:g.233055095C>T	NCBI36
NG_034065.1:g.10719G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004826.4:c.1796+277G>A MANE Select	NP_004817.2:n.1796+277G>A
ENST00000304546.6:c.1796+277G>A MANE Select	ENSP00000302051.1:n.1796+277G>A
NM_001290787.1:c.1790+277G>A	NP_001277716.1:n.1790+277G>A
NM_001290787.2:c.1790+277G>A	NP_001277716.1:n.1790+277G>A
NM_004826.3:c.1796+277G>A	NP_004817.2:n.1796+277G>A
ENST00000304546.5:c.1796+277G>A	ENSP00000302051.1:n.1796+277G>A
ENST00000409941.1:c.1790+277G>A	ENSP00000386333.1:n.1790+277G>A
ENST00000411860.5:c.41+277G>A	ENSP00000412683.1:n.41+277G>A
ENST00000482346.1:n.2107+277G>A