Canonical Allele Identifier: CA1240109717
Gene: EMILIN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27085308G= , CM000664.2:g.27085308G= GRCh38
NC_000002.11:g.27308176G= , CM000664.1:g.27308176G= GRCh37
NC_000002.10:g.27161680G= NCBI36
NG_012199.1:g.3566G=
NG_046849.1:g.11742G=
NG_012199.2:g.3566G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000380320.9:c.2713+11G= MANE Select ENSP00000369677.4:n.2713+11G=
ENST00000380320.8:c.2713+11G= ENSP00000369677.4:n.2713+11G=
ENST00000433140.1:c.705+11G=
NM_007046.3:c.2713+11G= NP_008977.1:n.2713+11G=
XM_006711928.2:c.2575+300G= XP_006711991.1:n.2575+300G=
NM_007046.4:c.2713+11G= MANE Select NP_008977.1:n.2713+11G=
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