Canonical Allele Identifier: CA914567949
Gene: ECEL1 HGNC NCBI

Linked Data

dbSNP Id: rs369425345
gnomAD v2: 2-233349491-G-T
gnomAD v3: 2-232484781-G-T
gnomAD v4: 2-232484781-G-T
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Genomic Alleles

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

Transcript Alleles

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