Canonical Allele Identifier: CA952181654
Gene: MED13L HGNC NCBI

Linked Data

dbSNP Id: rs1878483789

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.115997555G>A , CM000674.2:g.115997555G>A GRCh38
NC_000012.11:g.116435360G>A , CM000674.1:g.116435360G>A GRCh37
NC_000012.10:g.114919743G>A NCBI36
NG_023366.1:g.284632C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000281928.9:c.2570-325C>T MANE Select ENSP00000281928.3:n.2570-325C>T
ENST00000548743.2:c.2540-325C>T ENSP00000448553.2:n.2540-325C>T
ENST00000549786.2:c.1998-325C>T
ENST00000647927.1:n.2618C>T
ENST00000648173.1:n.1365-325C>T
ENST00000648379.1:n.938-325C>T
ENST00000648737.1:n.2334-325C>T
ENST00000648916.1:n.581-325C>T
ENST00000649607.1:c.757-328C>T
ENST00000650226.1:c.2570-325C>T ENSP00000496981.1:n.2570-325C>T
ENST00000281928.7:c.2570-325C>T ENSP00000281928.3:n.2570-325C>T
NM_015335.4:c.2570-325C>T NP_056150.1:n.2570-325C>T
XM_011538080.1:c.2570-325C>T XP_011536382.1:n.2570-325C>T
XM_011538081.1:c.2570-328C>T XP_011536383.1:n.2570-328C>T
XM_011538082.1:c.2540-325C>T XP_011536384.1:n.2540-325C>T
XM_011538080.2:c.2570-325C>T XP_011536382.1:n.2570-325C>T
XM_011538081.2:c.2570-328C>T XP_011536383.1:n.2570-328C>T
XM_011538082.2:c.2540-325C>T XP_011536384.1:n.2540-325C>T
XM_017019090.1:c.2570-328C>T XP_016874579.1:n.2570-328C>T
NM_015335.5:c.2570-325C>T MANE Select NP_056150.1:n.2570-325C>T