Canonical Allele Identifier: CA346156131
Gene: EMILIN1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27085210G>T , CM000664.2:g.27085210G>T GRCh38
NC_000002.11:g.27308078G>T , CM000664.1:g.27308078G>T GRCh37
NC_000002.10:g.27161582G>T NCBI36
NG_012199.1:g.3468G>T
NG_046849.1:g.11644G>T
NG_012199.2:g.3468G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000380320.9:c.2626G>T MANE Select ENSP00000369677.4:p.Ala876Ser
ENST00000380320.8:c.2626G>T ENSP00000369677.4:p.Ala876Ser
ENST00000433140.1:c.618G>T
NM_007046.3:c.2626G>T NP_008977.1:p.Ala876Ser
XM_006711928.2:c.2575+202G>T XP_006711991.1:n.2575+202G>T
NM_007046.4:c.2626G>T MANE Select NP_008977.1:p.Ala876Ser