Canonical Allele Identifier: CA1240109505
Gene: EMILIN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27084854T= , CM000664.2:g.27084854T= GRCh38
NC_000002.11:g.27307722T= , CM000664.1:g.27307722T= GRCh37
NC_000002.10:g.27161226T= NCBI36
NG_012199.1:g.3112T=
NG_046849.1:g.11288T=
NG_012199.2:g.3112T=

Transcript Alleles

HGVS Amino-acid change
ENST00000380320.9:c.2558-137T= MANE Select ENSP00000369677.4:n.2558-137T=
ENST00000380320.8:c.2558-137T= ENSP00000369677.4:n.2558-137T=
ENST00000433140.1:c.550-137T=
NM_007046.3:c.2558-137T= NP_008977.1:n.2558-137T=
XM_006711928.2:c.2558-137T= XP_006711991.1:n.2558-137T=
NM_007046.4:c.2558-137T= MANE Select NP_008977.1:n.2558-137T=