Canonical Allele Identifier: CA346156346
Gene: EMILIN1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27085271A>T , CM000664.2:g.27085271A>T GRCh38
NC_000002.11:g.27308139A>T , CM000664.1:g.27308139A>T GRCh37
NC_000002.10:g.27161643A>T NCBI36
NG_012199.1:g.3529A>T
NG_046849.1:g.11705A>T
NG_012199.2:g.3529A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000380320.9:c.2687A>T MANE Select ENSP00000369677.4:p.Asp896Val
ENST00000380320.8:c.2687A>T ENSP00000369677.4:p.Asp896Val
ENST00000433140.1:c.679A>T
NM_007046.3:c.2687A>T NP_008977.1:p.Asp896Val
XM_006711928.2:c.2575+263A>T XP_006711991.1:n.2575+263A>T
NM_007046.4:c.2687A>T MANE Select NP_008977.1:p.Asp896Val