Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.135535750A>G , CM000667.2:g.135535750A>G | GRCh38 |
| NC_000005.9:g.134871440A>G , CM000667.1:g.134871440A>G | GRCh37 |
| NC_000005.8:g.134899339A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698885.1:n.364+25994A>G (SLC25A48) | ||
| ENST00000314744.6:c.-60T>C (NEUROG1) MANE Select | ENSP00000317580.4:n.-60T>C | |
| ENST00000314744.5:c.-60T>C (NEUROG1) | ENSP00000317580.4:n.-60T>C | |
| NM_006161.2:c.-60T>C (NEUROG1) | NP_006152.2:n.-60T>C | |
| NM_006161.3:c.-60T>C (NEUROG1) MANE Select | NP_006152.2:n.-60T>C |