Canonical Allele Identifier: CA425382095
Gene: EMILIN1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.27308047A>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27085179A>G , CM000664.2:g.27085179A>G GRCh38
NC_000002.11:g.27308047A>G , CM000664.1:g.27308047A>G GRCh37
NC_000002.10:g.27161551A>G NCBI36
NG_012199.1:g.3437A>G
NG_046849.1:g.11613A>G
NG_012199.2:g.3437A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000380320.9:c.2595A>G MANE Select ENSP00000369677.4:p.Ala865=
ENST00000380320.8:c.2595A>G ENSP00000369677.4:p.Ala865=
ENST00000433140.1:c.587A>G
NM_007046.3:c.2595A>G NP_008977.1:p.Ala865=
XM_006711928.2:c.2575+171A>G XP_006711991.1:n.2575+171A>G
NM_007046.4:c.2595A>G MANE Select NP_008977.1:p.Ala865=
Search 100 bp 5'
Search 100 bp 3'