Canonical Allele Identifier: CA346156320
Gene: EMILIN1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27085265T>A , CM000664.2:g.27085265T>A GRCh38
NC_000002.11:g.27308133T>A , CM000664.1:g.27308133T>A GRCh37
NC_000002.10:g.27161637T>A NCBI36
NG_012199.1:g.3523T>A
NG_046849.1:g.11699T>A
NG_012199.2:g.3523T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000380320.9:c.2681T>A MANE Select ENSP00000369677.4:p.Leu894His
ENST00000380320.8:c.2681T>A ENSP00000369677.4:p.Leu894His
ENST00000433140.1:c.673T>A
NM_007046.3:c.2681T>A NP_008977.1:p.Leu894His
XM_006711928.2:c.2575+257T>A XP_006711991.1:n.2575+257T>A
NM_007046.4:c.2681T>A MANE Select NP_008977.1:p.Leu894His