Canonical Allele Identifier: CA2658282802

Gene: EMILIN1

Linked Data

• gnomAD v4: 2-27084871-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27084871C>G , CM000664.2:g.27084871C>G	GRCh38
NC_000002.11:g.27307739C>G , CM000664.1:g.27307739C>G	GRCh37
NC_000002.10:g.27161243C>G	NCBI36
NG_012199.1:g.3129C>G
NG_046849.1:g.11305C>G
NG_012199.2:g.3129C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380320.9:c.2558-120C>G MANE Select	ENSP00000369677.4:n.2558-120C>G
ENST00000380320.8:c.2558-120C>G	ENSP00000369677.4:n.2558-120C>G
ENST00000433140.1:c.550-120C>G
NM_007046.3:c.2558-120C>G	NP_008977.1:n.2558-120C>G
XM_006711928.2:c.2558-120C>G	XP_006711991.1:n.2558-120C>G
NM_007046.4:c.2558-120C>G MANE Select	NP_008977.1:n.2558-120C>G