Linked Data
ClinVar Variation Id:
504817
dbSNP Id:
rs73568059
ExAC:
19:45206815 C / T
gnomAD v2:
19-45206815-C-T
gnomAD v3:
19-44703545-C-T
gnomAD v4:
19-44703545-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.44703545C>T , CM000681.2:g.44703545C>T | GRCh38 |
| NC_000019.9:g.45206815C>T , CM000681.1:g.45206815C>T | GRCh37 |
| NC_000019.8:g.49898655C>T | NCBI36 |
| NG_032692.2:g.9395C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000587331.7:c.234C>T (CEACAM16) MANE Select | ENSP00000466561.1:p.Gly78= | |
| ENST00000405314.2:c.234C>T (CEACAM16) | ENSP00000385576.1:p.Gly78= | |
| ENST00000587331.5:c.234C>T (CEACAM16) | ENSP00000466561.1:p.Gly78= | |
| NM_001039213.3:c.234C>T (CEACAM16) | NP_001034302.2:p.Gly78= | |
| XM_011526951.1:c.234C>T (CEACAM16) | XP_011525253.1:p.Gly78= | |
| NM_001039213.4:c.234C>T (CEACAM16) MANE Select | NP_001034302.2:p.Gly78= | |
| XM_017026795.1:c.234C>T (CEACAM16) | XP_016882284.1:p.Gly78= | |
| XR_001753953.1:n.436-4368G>A (CEACAM16-AS1) | ||
| XR_001753954.1:n.373-4368G>A (CEACAM16-AS1) |