Canonical Allele Identifier: CA386888951
Gene: MED13L HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.115991847C>G , CM000674.2:g.115991847C>G GRCh38
NC_000012.11:g.116429652C>G , CM000674.1:g.116429652C>G GRCh37
NC_000012.10:g.114914035C>G NCBI36
NG_023366.1:g.290340G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000281928.9:c.3107G>C MANE Select ENSP00000281928.3:p.Gly1036Ala
ENST00000548743.2:c.3077G>C ENSP00000448553.2:p.Gly1026Ala
ENST00000549786.2:c.2535G>C
ENST00000648173.1:n.1902G>C
ENST00000648379.1:n.1475G>C
ENST00000648737.1:n.2871G>C
ENST00000648916.1:n.1118G>C
ENST00000649607.1:c.1291G>C
ENST00000650226.1:c.3107G>C ENSP00000496981.1:p.Gly1036Ala
ENST00000281928.7:c.3107G>C ENSP00000281928.3:p.Gly1036Ala
NM_015335.4:c.3107G>C NP_056150.1:p.Gly1036Ala
XM_011538080.1:c.3107G>C XP_011536382.1:p.Gly1036Ala
XM_011538081.1:c.3104G>C XP_011536383.1:p.Gly1035Ala
XM_011538082.1:c.3077G>C XP_011536384.1:p.Gly1026Ala
XM_011538080.2:c.3107G>C XP_011536382.1:p.Gly1036Ala
XM_011538081.2:c.3104G>C XP_011536383.1:p.Gly1035Ala
XM_011538082.2:c.3077G>C XP_011536384.1:p.Gly1026Ala
XM_017019090.1:c.3104G>C XP_016874579.1:p.Gly1035Ala
NM_015335.5:c.3107G>C MANE Select NP_056150.1:p.Gly1036Ala