MyVariant.info:
GRCh38
chr21:g.44250907C>T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44250907C>T , CM000683.2:g.44250907C>T | GRCh38 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000628202.3:c.812G>A (DNMT3L) MANE Select | ENSP00000486001.1:p.Arg271Gln | |
| ENST00000270172.7:c.812G>A (DNMT3L) | ENSP00000270172.3:p.Arg271Gln | |
| ENST00000431166.1:c.767G>A (DNMT3L) | ENSP00000400242.1:p.Arg256Gln | |
| ENST00000436357.5:c.196G>A (DNMT3L) | ||
| ENST00000628202.2:c.812G>A (DNMT3L) | ENSP00000486001.1:p.Arg271Gln | |
| NM_013369.3:c.812G>A (DNMT3L) | NP_037501.2:p.Arg271Gln | |
| NM_175867.2:c.812G>A (DNMT3L) | NP_787063.1:p.Arg271Gln | |
| XM_011529536.1:c.812G>A (DNMT3L) | XP_011527838.1:p.Arg271Gln | |
| XR_937792.1:n.95C>T (DNMT3L-AS1) | ||
| NR_135514.1:n.95C>T (DNMT3L-AS1) | ||
| NM_013369.4:c.812G>A (DNMT3L) | NP_037501.2:p.Arg271Gln | |
| NM_175867.3:c.812G>A (DNMT3L) MANE Select | NP_787063.1:p.Arg271Gln |