Canonical Allele Identifier: CA346156373
Gene: EMILIN1 HGNC NCBI

Linked Data

dbSNP Id: rs1451030462
gnomAD v4: 2-27085280-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27085280A>G , CM000664.2:g.27085280A>G GRCh38
NC_000002.11:g.27308148A>G , CM000664.1:g.27308148A>G GRCh37
NC_000002.10:g.27161652A>G NCBI36
NG_012199.1:g.3538A>G
NG_046849.1:g.11714A>G
NG_012199.2:g.3538A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000380320.9:c.2696A>G MANE Select ENSP00000369677.4:p.Tyr899Cys
ENST00000380320.8:c.2696A>G ENSP00000369677.4:p.Tyr899Cys
ENST00000433140.1:c.688A>G
NM_007046.3:c.2696A>G NP_008977.1:p.Tyr899Cys
XM_006711928.2:c.2575+272A>G XP_006711991.1:n.2575+272A>G
NM_007046.4:c.2696A>G MANE Select NP_008977.1:p.Tyr899Cys