Canonical Allele Identifier: CA1240106944

Gene: EMILIN1

Linked Data

• dbSNP Id: rs2289360

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27079297T>G , CM000664.2:g.27079297T>G	GRCh38
NC_000002.11:g.27302165T>G , CM000664.1:g.27302165T>G	GRCh37
NC_000002.10:g.27155669T>G	NCBI36
NG_046849.1:g.5731T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000380320.9:c.170+62T>G MANE Select	ENSP00000369677.4:n.170+62T>G
ENST00000380320.8:c.170+62T>G	ENSP00000369677.4:n.170+62T>G
NM_007046.3:c.170+62T>G	NP_008977.1:n.170+62T>G
XM_006711928.2:c.170+62T>G	XP_006711991.1:n.170+62T>G
NM_007046.4:c.170+62T>G MANE Select	NP_008977.1:n.170+62T>G