Canonical Allele Identifier: CA2663614531
Gene: ECEL1 HGNC NCBI

Linked Data

gnomAD v4: 2-232484786-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.232484786C>A , CM000664.2:g.232484786C>A GRCh38
NC_000002.11:g.233349496C>A , CM000664.1:g.233349496C>A GRCh37
NC_000002.10:g.233057740C>A NCBI36
NG_034065.1:g.8074G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000304546.6:c.1059+15G>T MANE Select ENSP00000302051.1:n.1059+15G>T
ENST00000304546.5:c.1059+15G>T ENSP00000302051.1:n.1059+15G>T
ENST00000409941.1:c.1059+15G>T ENSP00000386333.1:n.1059+15G>T
ENST00000482346.1:n.1370+15G>T
NM_001290787.1:c.1059+15G>T NP_001277716.1:n.1059+15G>T
NM_004826.3:c.1059+15G>T NP_004817.2:n.1059+15G>T
NM_004826.4:c.1059+15G>T MANE Select NP_004817.2:n.1059+15G>T
NM_001290787.2:c.1059+15G>T NP_001277716.1:n.1059+15G>T
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