Canonical Allele Identifier: CA346156250
Gene: EMILIN1 HGNC NCBI

Linked Data

gnomAD v4: 2-27085246-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27085246C>T , CM000664.2:g.27085246C>T GRCh38
NC_000002.11:g.27308114C>T , CM000664.1:g.27308114C>T GRCh37
NC_000002.10:g.27161618C>T NCBI36
NG_012199.1:g.3504C>T
NG_046849.1:g.11680C>T
NG_012199.2:g.3504C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000380320.9:c.2662C>T MANE Select ENSP00000369677.4:p.Pro888Ser
ENST00000380320.8:c.2662C>T ENSP00000369677.4:p.Pro888Ser
ENST00000433140.1:c.654C>T
NM_007046.3:c.2662C>T NP_008977.1:p.Pro888Ser
XM_006711928.2:c.2575+238C>T XP_006711991.1:n.2575+238C>T
NM_007046.4:c.2662C>T MANE Select NP_008977.1:p.Pro888Ser