Canonical Allele Identifier: CA1411084983
Gene: MED12L HGNC NCBI

Linked Data

dbSNP Id: rs1713572337

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.151387363G>C , CM000665.2:g.151387363G>C GRCh38
NC_000003.11:g.151105151G>C , CM000665.1:g.151105151G>C GRCh37
NC_000003.10:g.152587841G>C NCBI36
NG_016019.1:g.2394C>G , LRG_569:g.2394C>G
NG_021244.1:g.305476G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000687756.1:c.5089-447G>C MANE Select ENSP00000508695.1:n.5089-447G>C
ENST00000273432.8:c.4564-447G>C ENSP00000273432.4:n.4564-447G>C
ENST00000474524.5:c.4984-447G>C ENSP00000417235.1:n.4984-447G>C
NM_053002.5:c.4984-447G>C NP_443728.3:n.4984-447G>C
XM_006713487.2:c.5089-447G>C XP_006713550.1:n.5089-447G>C
XM_011512386.1:c.5089-447G>C XP_011510688.1:n.5089-447G>C
XM_011512387.1:c.5086-447G>C XP_011510689.1:n.5086-447G>C
XM_011512388.1:c.5089-447G>C XP_011510690.1:n.5089-447G>C
XM_011512389.1:c.4984-447G>C XP_011510691.1:n.4984-447G>C
XM_011512390.1:c.4984-447G>C XP_011510692.1:n.4984-447G>C
XM_011512391.1:c.4819-447G>C XP_011510693.1:n.4819-447G>C
XM_011512392.1:c.4633-447G>C XP_011510694.1:n.4633-447G>C
XM_011512393.1:c.5089-447G>C XP_011510695.1:n.5089-447G>C
XM_011512394.1:c.5089-447G>C XP_011510696.1:n.5089-447G>C
XM_011512395.1:c.5089-447G>C XP_011510697.1:n.5089-447G>C
XM_011512396.1:c.3514-447G>C XP_011510698.1:n.3514-447G>C
XM_011512397.1:c.2956-447G>C XP_011510699.1:n.2956-447G>C
XM_011512398.1:c.2884-447G>C XP_011510700.1:n.2884-447G>C
XM_011512400.1:c.1906-447G>C XP_011510702.1:n.1906-447G>C
XM_006713487.3:c.5089-447G>C XP_006713550.1:n.5089-447G>C
XM_011512390.2:c.4984-447G>C XP_011510692.1:n.4984-447G>C
XM_011512394.2:c.5089-447G>C XP_011510696.1:n.5089-447G>C
XM_017005676.1:c.5089-447G>C XP_016861165.1:n.5089-447G>C
XM_017005677.1:c.5086-447G>C XP_016861166.1:n.5086-447G>C
XM_017005678.1:c.5089-447G>C XP_016861167.1:n.5089-447G>C
XM_017005679.1:c.4819-447G>C XP_016861168.1:n.4819-447G>C
XM_017005680.1:c.4807-447G>C XP_016861169.1:n.4807-447G>C
XM_017005681.1:c.2476-447G>C XP_016861170.1:n.2476-447G>C
XR_001740000.1:n.5486-447G>C
NM_001393769.1:c.5089-447G>C MANE Select NP_001380698.1:n.5089-447G>C
NM_053002.6:c.4984-447G>C NP_443728.3:n.4984-447G>C