Canonical Allele Identifier: CA1240109554
Gene: EMILIN1 HGNC NCBI

Linked Data

dbSNP Id: rs1249026016
gnomAD v4: 2-27084944-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27084944A>G , CM000664.2:g.27084944A>G GRCh38
NC_000002.11:g.27307812A>G , CM000664.1:g.27307812A>G GRCh37
NC_000002.10:g.27161316A>G NCBI36
NG_012199.1:g.3202A>G
NG_046849.1:g.11378A>G
NG_012199.2:g.3202A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000380320.9:c.2558-47A>G MANE Select ENSP00000369677.4:n.2558-47A>G
ENST00000380320.8:c.2558-47A>G ENSP00000369677.4:n.2558-47A>G
ENST00000433140.1:c.550-47A>G
NM_007046.3:c.2558-47A>G NP_008977.1:n.2558-47A>G
XM_006711928.2:c.2558-47A>G XP_006711991.1:n.2558-47A>G
NM_007046.4:c.2558-47A>G MANE Select NP_008977.1:n.2558-47A>G
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