Canonical Allele Identifier: CA351000020
Gene: ECEL1 HGNC NCBI
ClinVar RCV:
ClinVar Variation:
MyVariant.info:

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.232484199C>A , CM000664.2:g.232484199C>A GRCh38
NC_000002.11:g.233348909C>A , CM000664.1:g.233348909C>A GRCh37
NC_000002.10:g.233057153C>A NCBI36
NG_034065.1:g.8661G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000304546.6:c.1209G>T MANE Select ENSP00000302051.1:p.Trp403Cys
ENST00000304546.5:c.1209G>T ENSP00000302051.1:p.Trp403Cys
ENST00000409941.1:c.1209G>T ENSP00000386333.1:p.Trp403Cys
ENST00000482346.1:n.1520G>T
NM_001290787.1:c.1209G>T NP_001277716.1:p.Trp403Cys
NM_004826.3:c.1209G>T NP_004817.2:p.Trp403Cys
NM_004826.4:c.1209G>T MANE Select NP_004817.2:p.Trp403Cys
NM_001290787.2:c.1209G>T NP_001277716.1:p.Trp403Cys