Canonical Allele Identifier: CA386885347
Gene: MED13L HGNC NCBI
MyVariant.info:
GRCh38 chr12:g.115987198C>T
GRCh37 chr12:g.116425003C>T
Revel Score:
ENST00000281928 (MANE Select) 0.415
gnomAD v2:
12:116425003 C / T
gnomAD v3:
12:115987198 C / T
gnomAD v4:
chr12-115987198-C-T
Joint Max Group AF 0.00000124 (NFE)
Genomes Max Group AF 0.00001171 (NFE)
Exomes Max Group AF 3e-7 (NFE)
ClinVar Allele:
2096240
ClinVar RCV:
RCV002909145
ClinVar Variation:
2046106
dbSNP:
1157874688
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.115987198C>T , CM000674.2:g.115987198C>T GRCh38
NC_000012.11:g.116425003C>T , CM000674.1:g.116425003C>T GRCh37
NC_000012.10:g.114909386C>T NCBI36
NG_023366.1:g.294989G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000281928.9:c.4025G>A MANE Select ENSP00000281928.3:p.Arg1342His
ENST00000549786.2:c.3453G>A
ENST00000648379.1:n.2393G>A
ENST00000648737.1:n.3789G>A
ENST00000648825.1:n.765G>A
ENST00000648916.1:n.2036G>A
ENST00000649607.1:c.2209G>A
ENST00000649775.1:c.522G>A
ENST00000650091.1:n.1382G>A
ENST00000650226.1:c.4025G>A ENSP00000496981.1:p.Arg1342His
ENST00000281928.7:c.4025G>A ENSP00000281928.3:p.Arg1342His
NM_015335.4:c.4025G>A NP_056150.1:p.Arg1342His
XM_011538080.1:c.4025G>A XP_011536382.1:p.Arg1342His
XM_011538081.1:c.4022G>A XP_011536383.1:p.Arg1341His
XM_011538082.1:c.3995G>A XP_011536384.1:p.Arg1332His
XM_011538080.2:c.4025G>A XP_011536382.1:p.Arg1342His
XM_011538081.2:c.4022G>A XP_011536383.1:p.Arg1341His
XM_011538082.2:c.3995G>A XP_011536384.1:p.Arg1332His
XM_017019090.1:c.4022G>A XP_016874579.1:p.Arg1341His
NM_015335.5:c.4025G>A MANE Select NP_056150.1:p.Arg1342His
Search 100 bp 5'
Search 100 bp 3'