Canonical Allele Identifier: CA2754655587
Gene: ECEL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.232484797T>A , CM000664.2:g.232484797T>A GRCh38
NC_000002.11:g.233349507T>A , CM000664.1:g.233349507T>A GRCh37
NC_000002.10:g.233057751T>A NCBI36
NG_034065.1:g.8063A>T

Transcript Alleles

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