Linked Data
MyVariant Identifiers:
chr4:g.55991401G>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.55125234G>T , CM000666.2:g.55125234G>T | GRCh38 |
| NC_000004.11:g.55991401G>T , CM000666.1:g.55991401G>T | GRCh37 |
| NC_000004.10:g.55686158G>T | NCBI36 |
| NG_012004.1:g.5362C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263923.5:c.60C>A MANE Select | ENSP00000263923.4:p.Ala20= | |
| ENST00000263923.4:c.60C>A | ENSP00000263923.4:p.Ala20= | |
| ENST00000512566.1:n.60C>A | ||
| NM_002253.2:c.60C>A | NP_002244.1:p.Ala20= | |
| NM_002253.3:c.60C>A | NP_002244.1:p.Ala20= | |
| NM_002253.4:c.60C>A MANE Select | NP_002244.1:p.Ala20= |