Canonical Allele Identifier: CA386890921
Gene: MED13L HGNC NCBI

Linked Data

dbSNP Id: rs1878460574

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.115997227A>C , CM000674.2:g.115997227A>C GRCh38
NC_000012.11:g.116435032A>C , CM000674.1:g.116435032A>C GRCh37
NC_000012.10:g.114919415A>C NCBI36
NG_023366.1:g.284960T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000281928.9:c.2573T>G MANE Select ENSP00000281928.3:p.Val858Gly
ENST00000548743.2:c.2543T>G ENSP00000448553.2:p.Val848Gly
ENST00000549786.2:c.2001T>G
ENST00000647927.1:n.2946T>G
ENST00000648173.1:n.1368T>G
ENST00000648379.1:n.941T>G
ENST00000648737.1:n.2337T>G
ENST00000648916.1:n.584T>G
ENST00000649607.1:c.757T>G
ENST00000650226.1:c.2573T>G ENSP00000496981.1:p.Val858Gly
ENST00000281928.7:c.2573T>G ENSP00000281928.3:p.Val858Gly
NM_015335.4:c.2573T>G NP_056150.1:p.Val858Gly
XM_011538080.1:c.2573T>G XP_011536382.1:p.Val858Gly
XM_011538081.1:c.2570T>G XP_011536383.1:p.Ile857Ser
XM_011538082.1:c.2543T>G XP_011536384.1:p.Val848Gly
XM_011538080.2:c.2573T>G XP_011536382.1:p.Val858Gly
XM_011538081.2:c.2570T>G XP_011536383.1:p.Ile857Ser
XM_011538082.2:c.2543T>G XP_011536384.1:p.Val848Gly
XM_017019090.1:c.2570T>G XP_016874579.1:p.Ile857Ser
NM_015335.5:c.2573T>G MANE Select NP_056150.1:p.Val858Gly