Canonical Allele Identifier: CA2658282757
Gene: EMILIN1 HGNC NCBI

Linked Data

gnomAD v4: 2-27084861-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27084861C>A , CM000664.2:g.27084861C>A GRCh38
NC_000002.11:g.27307729C>A , CM000664.1:g.27307729C>A GRCh37
NC_000002.10:g.27161233C>A NCBI36
NG_012199.1:g.3119C>A
NG_046849.1:g.11295C>A
NG_012199.2:g.3119C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000380320.9:c.2558-130C>A MANE Select ENSP00000369677.4:n.2558-130C>A
ENST00000380320.8:c.2558-130C>A ENSP00000369677.4:n.2558-130C>A
ENST00000433140.1:c.550-130C>A
NM_007046.3:c.2558-130C>A NP_008977.1:n.2558-130C>A
XM_006711928.2:c.2558-130C>A XP_006711991.1:n.2558-130C>A
NM_007046.4:c.2558-130C>A MANE Select NP_008977.1:n.2558-130C>A
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