Canonical Allele Identifier: CA6810491
Community Standard Title: NM_015335.5(MED13L):c.5890+11T>G
Gene: MED13L HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.115972067A>C , CM000674.2:g.115972067A>C GRCh38
NC_000012.11:g.116409872A>C , CM000674.1:g.116409872A>C GRCh37
NC_000012.10:g.114894255A>C NCBI36
NG_023366.1:g.310120T>G

Transcript Alleles

HGVS Amino-acid Change
NM_015335.5:c.5890+11T>G MANE Select NP_056150.1:n.5890+11T>G
ENST00000281928.9:c.5890+11T>G MANE Select ENSP00000281928.3:n.5890+11T>G
NM_015335.4:c.5890+11T>G NP_056150.1:n.5890+11T>G
ENST00000281928.7:c.5890+11T>G ENSP00000281928.3:n.5890+11T>G
ENST00000548694.2:n.880+11T>G
ENST00000548784.1:n.388+11T>G
ENST00000548784.2:n.2104+11T>G
ENST00000552447.1:c.503+11T>G
ENST00000648379.1:n.4258+11T>G
ENST00000648737.1:n.5654+11T>G
ENST00000648825.1:n.4075+11T>G
ENST00000648916.1:n.3901+11T>G
ENST00000649607.1:c.4074+11T>G
ENST00000649775.1:c.2379+11T>G
ENST00000650226.1:c.5926+11T>G ENSP00000496981.1:n.5926+11T>G
XM_011538080.1:c.5926+11T>G XP_011536382.1:n.5926+11T>G
XM_011538080.2:c.5926+11T>G XP_011536382.1:n.5926+11T>G
XM_011538081.1:c.5923+11T>G XP_011536383.1:n.5923+11T>G
XM_011538081.2:c.5923+11T>G XP_011536383.1:n.5923+11T>G
XM_011538082.1:c.5896+11T>G XP_011536384.1:n.5896+11T>G
XM_011538082.2:c.5896+11T>G XP_011536384.1:n.5896+11T>G
XM_017019090.1:c.5887+11T>G XP_016874579.1:n.5887+11T>G