Canonical Allele Identifier: CA531422392
Gene: EMILIN1 HGNC NCBI

Linked Data

dbSNP Id: rs1452829988
gnomAD v2: 2-27307694-G-A
gnomAD v3: 2-27084826-G-A
gnomAD v4: 2-27084826-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27084826G>A , CM000664.2:g.27084826G>A GRCh38
NC_000002.11:g.27307694G>A , CM000664.1:g.27307694G>A GRCh37
NC_000002.10:g.27161198G>A NCBI36
NG_012199.1:g.3084G>A
NG_046849.1:g.11260G>A
NG_012199.2:g.3084G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000380320.9:c.2558-165G>A MANE Select ENSP00000369677.4:n.2558-165G>A
ENST00000380320.8:c.2558-165G>A ENSP00000369677.4:n.2558-165G>A
ENST00000433140.1:c.550-165G>A
NM_007046.3:c.2558-165G>A NP_008977.1:n.2558-165G>A
XM_006711928.2:c.2558-165G>A XP_006711991.1:n.2558-165G>A
NM_007046.4:c.2558-165G>A MANE Select NP_008977.1:n.2558-165G>A