Canonical Allele Identifier: CA1240109617
Gene: EMILIN1 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27085073G= , CM000664.2:g.27085073G= GRCh38
NC_000002.11:g.27307941G= , CM000664.1:g.27307941G= GRCh37
NC_000002.10:g.27161445G= NCBI36
NG_012199.1:g.3331G=
NG_046849.1:g.11507G=
NG_012199.2:g.3331G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000380320.9:c.2575+65G= MANE Select ENSP00000369677.4:n.2575+65G=
ENST00000380320.8:c.2575+65G= ENSP00000369677.4:n.2575+65G=
ENST00000433140.1:c.567+65G=
NM_007046.3:c.2575+65G= NP_008977.1:n.2575+65G=
XM_006711928.2:c.2575+65G= XP_006711991.1:n.2575+65G=
NM_007046.4:c.2575+65G= MANE Select NP_008977.1:n.2575+65G=
Search 100 bp 5'
Search 100 bp 3'