Canonical Allele Identifier: CA2167420
Gene: ECEL1 HGNC NCBI

Linked Data

dbSNP Id: rs374174052

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.232484787T>G , CM000664.2:g.232484787T>G GRCh38
NC_000002.11:g.233349497T>G , CM000664.1:g.233349497T>G GRCh37
NC_000002.10:g.233057741T>G NCBI36
NG_034065.1:g.8073A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000304546.6:c.1059+14A>C MANE Select ENSP00000302051.1:n.1059+14A>C
ENST00000304546.5:c.1059+14A>C ENSP00000302051.1:n.1059+14A>C
ENST00000409941.1:c.1059+14A>C ENSP00000386333.1:n.1059+14A>C
ENST00000482346.1:n.1370+14A>C
NM_001290787.1:c.1059+14A>C NP_001277716.1:n.1059+14A>C
NM_004826.3:c.1059+14A>C NP_004817.2:n.1059+14A>C
NM_004826.4:c.1059+14A>C MANE Select NP_004817.2:n.1059+14A>C
NM_001290787.2:c.1059+14A>C NP_001277716.1:n.1059+14A>C