Canonical Allele Identifier: CA1335289243
Gene: ECEL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.232484873G= , CM000664.2:g.232484873G= GRCh38
NC_000002.11:g.233349583G= , CM000664.1:g.233349583G= GRCh37
NC_000002.10:g.233057827G= NCBI36
NG_034065.1:g.7987C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000304546.6:c.987C= MANE Select ENSP00000302051.1:p.Asp329=
ENST00000304546.5:c.987C= ENSP00000302051.1:p.Asp329=
ENST00000409941.1:c.987C= ENSP00000386333.1:p.Asp329=
ENST00000482346.1:n.1298C=
NM_001290787.1:c.987C= NP_001277716.1:p.Asp329=
NM_004826.3:c.987C= NP_004817.2:p.Asp329=
NM_004826.4:c.987C= MANE Select NP_004817.2:p.Asp329=
NM_001290787.2:c.987C= NP_001277716.1:p.Asp329=