Linked Data
ClinVar Variation Id:
930023
ClinVar RCV Id:
RCV001195412
dbSNP Id:
rs756280582
ExAC:
19:45207422 G / A
gnomAD v2:
19-45207422-G-A
gnomAD v4:
19-44704152-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.44704152G>A , CM000681.2:g.44704152G>A | GRCh38 |
| NC_000019.9:g.45207422G>A , CM000681.1:g.45207422G>A | GRCh37 |
| NC_000019.8:g.49899262G>A | NCBI36 |
| NG_032692.2:g.10002G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000587331.7:c.517G>A (CEACAM16) MANE Select | ENSP00000466561.1:p.Val173Ile | |
| ENST00000405314.2:c.517G>A (CEACAM16) | ENSP00000385576.1:p.Val173Ile | |
| ENST00000587331.5:c.517G>A (CEACAM16) | ENSP00000466561.1:p.Val173Ile | |
| NM_001039213.3:c.517G>A (CEACAM16) | NP_001034302.2:p.Val173Ile | |
| XM_011526951.1:c.517G>A (CEACAM16) | XP_011525253.1:p.Val173Ile | |
| NM_001039213.4:c.517G>A (CEACAM16) MANE Select | NP_001034302.2:p.Val173Ile | |
| XM_017026795.1:c.517G>A (CEACAM16) | XP_016882284.1:p.Val173Ile | |
| XR_001753953.1:n.436-4975C>T (CEACAM16-AS1) | ||
| XR_001753954.1:n.373-4975C>T (CEACAM16-AS1) |