Canonical Allele Identifier: CA1240109462
Gene: EMILIN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27084745G= , CM000664.2:g.27084745G= GRCh38
NC_000002.11:g.27307613G= , CM000664.1:g.27307613G= GRCh37
NC_000002.10:g.27161117G= NCBI36
NG_012199.1:g.3003G=
NG_046849.1:g.11179G=
NG_012199.2:g.3003G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000380320.9:c.2557+214G= MANE Select ENSP00000369677.4:n.2557+214G=
ENST00000380320.8:c.2557+214G= ENSP00000369677.4:n.2557+214G=
ENST00000433140.1:c.549+214G=
NM_007046.3:c.2557+214G= NP_008977.1:n.2557+214G=
XM_006711928.2:c.2557+214G= XP_006711991.1:n.2557+214G=
NM_007046.4:c.2557+214G= MANE Select NP_008977.1:n.2557+214G=
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