Canonical Allele Identifier: CA531422420
Gene: EMILIN1 HGNC NCBI

Linked Data

dbSNP Id: rs1461380184
gnomAD v2: 2-27307957-G-T
gnomAD v3: 2-27085089-G-T
gnomAD v4: 2-27085089-G-T
MyVariant Identifiers: chr2:g.27307957G>T (hg19) chr2:g.27085089G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27085089G>T , CM000664.2:g.27085089G>T GRCh38
NC_000002.11:g.27307957G>T , CM000664.1:g.27307957G>T GRCh37
NC_000002.10:g.27161461G>T NCBI36
NG_012199.1:g.3347G>T
NG_046849.1:g.11523G>T
NG_012199.2:g.3347G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000380320.9:c.2576-71G>T MANE Select ENSP00000369677.4:n.2576-71G>T
ENST00000380320.8:c.2576-71G>T ENSP00000369677.4:n.2576-71G>T
ENST00000433140.1:c.568-71G>T
NM_007046.3:c.2576-71G>T NP_008977.1:n.2576-71G>T
XM_006711928.2:c.2575+81G>T XP_006711991.1:n.2575+81G>T
NM_007046.4:c.2576-71G>T MANE Select NP_008977.1:n.2576-71G>T
Search 100 bp 5'
Search 100 bp 3'