Canonical Allele Identifier: CA1335289458
Gene: ECEL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.232484781G= , CM000664.2:g.232484781G= GRCh38
NC_000002.11:g.233349491G= , CM000664.1:g.233349491G= GRCh37
NC_000002.10:g.233057735G= NCBI36
NG_034065.1:g.8079C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000304546.6:c.1059+20C= MANE Select ENSP00000302051.1:n.1059+20C=
ENST00000304546.5:c.1059+20C= ENSP00000302051.1:n.1059+20C=
ENST00000409941.1:c.1059+20C= ENSP00000386333.1:n.1059+20C=
ENST00000482346.1:n.1370+20C=
NM_001290787.1:c.1059+20C= NP_001277716.1:n.1059+20C=
NM_004826.3:c.1059+20C= NP_004817.2:n.1059+20C=
NM_004826.4:c.1059+20C= MANE Select NP_004817.2:n.1059+20C=
NM_001290787.2:c.1059+20C= NP_001277716.1:n.1059+20C=