Canonical Allele Identifier: CA1240109647
Gene: EMILIN1 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27085133C= , CM000664.2:g.27085133C= GRCh38
NC_000002.11:g.27308001C= , CM000664.1:g.27308001C= GRCh37
NC_000002.10:g.27161505C= NCBI36
NG_012199.1:g.3391C=
NG_046849.1:g.11567C=
NG_012199.2:g.3391C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000380320.9:c.2576-27C= MANE Select ENSP00000369677.4:n.2576-27C=
ENST00000380320.8:c.2576-27C= ENSP00000369677.4:n.2576-27C=
ENST00000433140.1:c.568-27C=
NM_007046.3:c.2576-27C= NP_008977.1:n.2576-27C=
XM_006711928.2:c.2575+125C= XP_006711991.1:n.2575+125C=
NM_007046.4:c.2576-27C= MANE Select NP_008977.1:n.2576-27C=
Search 100 bp 5'
Search 100 bp 3'