Canonical Allele Identifier: CA645372712

Gene: ECEL1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.[232484156G>T;232484469T>A] , CM000664.2:g.[232484156G>T;232484469T>A]	GRCh38
NC_000002.11:g.[233348866G>T;233349179T>A] , CM000664.1:g.[233348866G>T;233349179T>A]	GRCh37
NC_000002.10:g.[233057110G>T;233057423T>A]	NCBI36
NG_034065.1:g.[8391A>T;8704C>A]

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304546.6:c.[1184+3A>T;1252C>A] MANE Select	ENSP00000302051.1:p.Arg418Ser
ENST00000304546.5:c.[1184+3A>T;1252C>A]	ENSP00000302051.1:p.Arg418Ser
ENST00000409941.1:c.[1184+3A>T;1252C>A]	ENSP00000386333.1:p.Arg418Ser
ENST00000482346.1:n.[1495+3A>T;1563C>A]
NM_001290787.1:c.[1184+3A>T;1252C>A]	NP_001277716.1:p.Arg418Ser
NM_004826.3:c.[1184+3A>T;1252C>A]	NP_004817.2:p.Arg418Ser
NM_004826.4:c.[1184+3A>T;1252C>A] MANE Select	NP_004817.2:p.Arg418Ser
NM_001290787.2:c.[1184+3A>T;1252C>A]	NP_001277716.1:p.Arg418Ser