Canonical Allele Identifier: CA2658283739
Gene: EMILIN1 HGNC NCBI

Linked Data

gnomAD v4: 2-27085306-G-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27085306G>C , CM000664.2:g.27085306G>C GRCh38
NC_000002.11:g.27308174G>C , CM000664.1:g.27308174G>C GRCh37
NC_000002.10:g.27161678G>C NCBI36
NG_012199.1:g.3564G>C
NG_046849.1:g.11740G>C
NG_012199.2:g.3564G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000380320.9:c.2713+9G>C MANE Select ENSP00000369677.4:n.2713+9G>C
ENST00000380320.8:c.2713+9G>C ENSP00000369677.4:n.2713+9G>C
ENST00000433140.1:c.705+9G>C
NM_007046.3:c.2713+9G>C NP_008977.1:n.2713+9G>C
XM_006711928.2:c.2575+298G>C XP_006711991.1:n.2575+298G>C
NM_007046.4:c.2713+9G>C MANE Select NP_008977.1:n.2713+9G>C
Search 100 bp 5'
Search 100 bp 3'