Canonical Allele Identifier: CA645372711

Gene: ECEL1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.[232484156G>A;232486064C>T] , CM000664.2:g.[232484156G>A;232486064C>T]	GRCh38
NC_000002.11:g.[233348866G>A;233350774C>T] , CM000664.1:g.[233348866G>A;233350774C>T]	GRCh37
NC_000002.10:g.[233057110G>A;233059018C>T]	NCBI36
NG_034065.1:g.[6796G>A;8704C>T]

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304546.6:c.[590G>A;1252C>T] MANE Select	ENSP00000302051.1:p.[Gly197Asp;Arg418Cys]
ENST00000304546.5:c.[590G>A;1252C>T]	ENSP00000302051.1:p.[Gly197Asp;Arg418Cys]
ENST00000409941.1:c.[590G>A;1252C>T]	ENSP00000386333.1:p.[Gly197Asp;Arg418Cys]
ENST00000482346.1:n.[794G>A;1563C>T]
NM_001290787.1:c.[590G>A;1252C>T]	NP_001277716.1:p.[Gly197Asp;Arg418Cys]
NM_004826.3:c.[590G>A;1252C>T]	NP_004817.2:p.[Gly197Asp;Arg418Cys]
NM_004826.4:c.[590G>A;1252C>T] MANE Select	NP_004817.2:p.[Gly197Asp;Arg418Cys]
NM_001290787.2:c.[590G>A;1252C>T]	NP_001277716.1:p.[Gly197Asp;Arg418Cys]