Canonical Allele Identifier: CA174029
Community Standard Title: NM_004826.4(ECEL1):c.2023G>A (p.Ala675Thr)
Gene: ECEL1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.232481123C>T , CM000664.2:g.232481123C>T GRCh38
NC_000002.11:g.233345833C>T , CM000664.1:g.233345833C>T GRCh37
NC_000002.10:g.233054077C>T NCBI36
NG_034065.1:g.11737G>A

Transcript Alleles

HGVS Amino-acid Change
NM_004826.4:c.2023G>A MANE Select NP_004817.2:p.Ala675Thr
ENST00000304546.6:c.2023G>A MANE Select ENSP00000302051.1:p.Ala675Thr
NM_001290787.1:c.2017G>A NP_001277716.1:p.Ala673Thr
NM_001290787.2:c.2017G>A NP_001277716.1:p.Ala673Thr
NM_004826.3:c.2023G>A NP_004817.2:p.Ala675Thr
ENST00000304546.5:c.2023G>A ENSP00000302051.1:p.Ala675Thr
ENST00000409941.1:c.2017G>A ENSP00000386333.1:p.Ala673Thr
ENST00000411860.5:c.235-310G>A ENSP00000412683.1:n.235-310G>A
ENST00000482346.1:n.2334G>A
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