Canonical Allele Identifier: CA2575306403
Gene: MED13L HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.115970530G>T , CM000674.2:g.115970530G>T GRCh38
NC_000012.11:g.116408335G>T , CM000674.1:g.116408335G>T GRCh37
NC_000012.10:g.114892718G>T NCBI36
NG_023366.1:g.311657C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000281928.9:c.6067+64C>A MANE Select ENSP00000281928.3:n.6067+64C>A
ENST00000548784.2:n.2281+64C>A
ENST00000648379.1:n.4435+64C>A
ENST00000648737.1:n.5831+64C>A
ENST00000648825.1:n.4252+64C>A
ENST00000648916.1:n.4078+64C>A
ENST00000649607.1:c.4251+64C>A
ENST00000649775.1:c.2556+64C>A
ENST00000650226.1:c.6103+64C>A ENSP00000496981.1:n.6103+64C>A
ENST00000281928.7:c.6067+64C>A ENSP00000281928.3:n.6067+64C>A
NM_015335.4:c.6067+64C>A NP_056150.1:n.6067+64C>A
XM_011538080.1:c.6103+64C>A XP_011536382.1:n.6103+64C>A
XM_011538081.1:c.6100+64C>A XP_011536383.1:n.6100+64C>A
XM_011538082.1:c.6073+64C>A XP_011536384.1:n.6073+64C>A
XM_011538080.2:c.6103+64C>A XP_011536382.1:n.6103+64C>A
XM_011538081.2:c.6100+64C>A XP_011536383.1:n.6100+64C>A
XM_011538082.2:c.6073+64C>A XP_011536384.1:n.6073+64C>A
XM_017019090.1:c.6064+64C>A XP_016874579.1:n.6064+64C>A
NM_015335.5:c.6067+64C>A MANE Select NP_056150.1:n.6067+64C>A