Revel Score:
ENST00000272895 (MANE Select)
0.678
ENST00000389661
0.678
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.214948607C>A , CM000664.2:g.214948607C>A | GRCh38 |
| NC_000002.11:g.215813331C>A , CM000664.1:g.215813331C>A | GRCh37 |
| NC_000002.10:g.215521576C>A | NCBI36 |
| NG_007074.1:g.194821G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272895.12:c.7093G>T (ABCA12) MANE Select | ENSP00000272895.7:p.Asp2365Tyr | |
| ENST00000272895.11:c.7093G>T (ABCA12) | ENSP00000272895.7:p.Asp2365Tyr | |
| ENST00000389661.4:c.6139G>T (ABCA12) | ENSP00000374312.4:p.Asp2047Tyr | |
| NM_015657.3:c.6139G>T (ABCA12) | NP_056472.2:p.Asp2047Tyr | |
| NM_173076.2:c.7093G>T (ABCA12) | NP_775099.2:p.Asp2365Tyr | |
| NR_103740.1:n.7393G>T (ABCA12) | ||
| NR_110292.1:n.444+660C>A (SNHG31) | ||
| XM_011510951.1:c.7102G>T (ABCA12) | XP_011509253.1:p.Asp2368Tyr | |
| XM_011510951.2:c.7102G>T (ABCA12) | XP_011509253.1:p.Asp2368Tyr | |
| NM_173076.3:c.7093G>T (ABCA12) MANE Select | NP_775099.2:p.Asp2365Tyr | |
| NR_103740.2:n.7591G>T (ABCA12) | ||
| NM_015657.4:c.6139G>T (ABCA12) | NP_056472.2:p.Asp2047Tyr |