Canonical Allele Identifier: CA1335289459
Gene: ECEL1 HGNC NCBI

Genomic Alleles

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

Transcript Alleles

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