Linked Data
dbSNP Id:
rs10861342
gnomAD v2:
12-105458797-T-C
gnomAD v3:
12-105065019-T-C
gnomAD v4:
12-105065019-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.105065019T>C , CM000674.2:g.105065019T>C | GRCh38 |
| NC_000012.11:g.105458797T>C , CM000674.1:g.105458797T>C | GRCh37 |
| NC_000012.10:g.103982927T>C | NCBI36 |
| NG_012748.1:g.24545A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000258494.14:c.786+248A>G (ALDH1L2) MANE Select | ENSP00000258494.9:n.786+248A>G | |
| ENST00000547750.2:c.*31-7334T>C (NOPCHAP1) | ENSP00000490830.1:n.*31-7334T>C | |
| ENST00000652515.1:c.813+248A>G (ALDH1L2) | ENSP00000499136.1:n.813+248A>G | |
| ENST00000258494.13:c.786+248A>G (ALDH1L2) | ENSP00000258494.9:n.786+248A>G | |
| ENST00000549335.5:n.128+248A>G (ALDH1L2) | ||
| ENST00000552270.1:c.*170+248A>G (ALDH1L2) | ENSP00000447538.1:n.*170+248A>G | |
| NM_001034173.3:c.786+248A>G (ALDH1L2) | NP_001029345.2:n.786+248A>G | |
| NR_027752.1:n.909+248A>G (ALDH1L2) | ||
| XM_011537986.1:c.348+248A>G (ALDH1L2) | XP_011536288.1:n.348+248A>G | |
| XM_011537987.1:c.348+248A>G (ALDH1L2) | XP_011536289.1:n.348+248A>G | |
| XM_011537988.1:c.786+248A>G (ALDH1L2) | XP_011536290.1:n.786+248A>G | |
| XM_011537989.1:c.786+248A>G (ALDH1L2) | XP_011536291.1:n.786+248A>G | |
| XM_011537986.2:c.348+248A>G (ALDH1L2) | XP_011536288.1:n.348+248A>G | |
| XM_011537988.3:c.786+248A>G (ALDH1L2) | XP_011536290.1:n.786+248A>G | |
| XM_011537989.3:c.786+248A>G (ALDH1L2) | XP_011536291.1:n.786+248A>G | |
| XM_017018889.1:c.348+248A>G (ALDH1L2) | XP_016874378.1:n.348+248A>G | |
| XM_017018890.2:c.786+248A>G (ALDH1L2) | XP_016874379.1:n.786+248A>G | |
| NM_001034173.4:c.786+248A>G (ALDH1L2) MANE Select | NP_001029345.2:n.786+248A>G | |
| NR_027752.2:n.804+248A>G (ALDH1L2) |