Canonical Allele Identifier: CA2576702677
Gene: EMILIN1 HGNC NCBI

Linked Data

gnomAD v4: 2-27085080-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27085080C>G , CM000664.2:g.27085080C>G GRCh38
NC_000002.11:g.27307948C>G , CM000664.1:g.27307948C>G GRCh37
NC_000002.10:g.27161452C>G NCBI36
NG_012199.1:g.3338C>G
NG_046849.1:g.11514C>G
NG_012199.2:g.3338C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000380320.9:c.2575+72C>G MANE Select ENSP00000369677.4:n.2575+72C>G
ENST00000380320.8:c.2575+72C>G ENSP00000369677.4:n.2575+72C>G
ENST00000433140.1:c.567+72C>G
NM_007046.3:c.2575+72C>G NP_008977.1:n.2575+72C>G
XM_006711928.2:c.2575+72C>G XP_006711991.1:n.2575+72C>G
NM_007046.4:c.2575+72C>G MANE Select NP_008977.1:n.2575+72C>G
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