Canonical Allele Identifier: CA425382244
Gene: EMILIN1 HGNC NCBI

Linked Data

gnomAD v4: 2-27085263-G-A
MyVariant Identifiers: chr2:g.27308131G>A (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27085263G>A , CM000664.2:g.27085263G>A GRCh38
NC_000002.11:g.27308131G>A , CM000664.1:g.27308131G>A GRCh37
NC_000002.10:g.27161635G>A NCBI36
NG_012199.1:g.3521G>A
NG_046849.1:g.11697G>A
NG_012199.2:g.3521G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000380320.9:c.2679G>A MANE Select ENSP00000369677.4:p.Leu893=
ENST00000380320.8:c.2679G>A ENSP00000369677.4:p.Leu893=
ENST00000433140.1:c.671G>A
NM_007046.3:c.2679G>A NP_008977.1:p.Leu893=
XM_006711928.2:c.2575+255G>A XP_006711991.1:n.2575+255G>A
NM_007046.4:c.2679G>A MANE Select NP_008977.1:p.Leu893=
Search 100 bp 5'
Search 100 bp 3'