Canonical Allele Identifier: CA346155881
Gene: EMILIN1 HGNC NCBI

Linked Data

gnomAD v4: 2-27084994-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27084994C>G , CM000664.2:g.27084994C>G GRCh38
NC_000002.11:g.27307862C>G , CM000664.1:g.27307862C>G GRCh37
NC_000002.10:g.27161366C>G NCBI36
NG_012199.1:g.3252C>G
NG_046849.1:g.11428C>G
NG_012199.2:g.3252C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000380320.9:c.2561C>G MANE Select ENSP00000369677.4:p.Pro854Arg
ENST00000380320.8:c.2561C>G ENSP00000369677.4:p.Pro854Arg
ENST00000433140.1:c.553C>G
NM_007046.3:c.2561C>G NP_008977.1:p.Pro854Arg
XM_006711928.2:c.2561C>G XP_006711991.1:p.Pro854Arg
NM_007046.4:c.2561C>G MANE Select NP_008977.1:p.Pro854Arg