Canonical Allele Identifier: CA1240109713
Gene: EMILIN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27085297G= , CM000664.2:g.27085297G= GRCh38
NC_000002.11:g.27308165G= , CM000664.1:g.27308165G= GRCh37
NC_000002.10:g.27161669G= NCBI36
NG_012199.1:g.3555G=
NG_046849.1:g.11731G=
NG_012199.2:g.3555G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000380320.9:c.2713G= MANE Select ENSP00000369677.4:p.Gly905=
ENST00000380320.8:c.2713G= ENSP00000369677.4:p.Gly905=
ENST00000433140.1:c.705G=
NM_007046.3:c.2713G= NP_008977.1:p.Gly905=
XM_006711928.2:c.2575+289G= XP_006711991.1:n.2575+289G=
NM_007046.4:c.2713G= MANE Select NP_008977.1:p.Gly905=