Canonical Allele Identifier: CA11061185
Gene: EMILIN1 HGNC NCBI

Identifiers and link-outs to other resources

dbSNP Id: rs2304682

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27084901G>C , CM000664.2:g.27084901G>C GRCh38
NC_000002.11:g.27307769G>C , CM000664.1:g.27307769G>C GRCh37
NC_000002.10:g.27161273G>C NCBI36
NG_012199.1:g.3159G>C
NG_046849.1:g.11335G>C

Transcript Alleles

HGVS Amino-acid change
NM_007046.3:c.2558-90G>C VV NP_008977.1:p.=
XM_006711928.2:c.2558-90G>C XP_006711991.1:p.=
ENST00000380320.8:c.2558-90G>C ENSP00000369677.4:p.=
ENST00000433140.1:n.550-90G>C