Canonical Allele Identifier: CA85738115
Gene: MED12L HGNC NCBI

Identifiers and link-outs to other resources

dbSNP Id: rs10513398

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.151387443A>G , CM000665.2:g.151387443A>G GRCh38
NC_000003.10:g.152587921A>G NCBI36
NC_000003.11:g.151105231A>G , CM000665.1:g.151105231A>G GRCh37
NG_016019.1:g.2314T>C , LRG_569:g.2314T>C
NG_021244.1:g.305556A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000273432.8:c.4564-367A>G ENSP00000273432.4:p.=
ENST00000474524.5:c.4984-367A>G ENSP00000417235.1:p.=
NM_053002.5:c.4984-367A>G VV NP_443728.3:p.=
XM_006713487.2:c.5089-367A>G XP_006713550.1:p.=
XM_011512386.1:c.5089-367A>G XP_011510688.1:p.=
XM_011512387.1:c.5086-367A>G XP_011510689.1:p.=
XM_011512388.1:c.5089-367A>G XP_011510690.1:p.=
XM_011512389.1:c.4984-367A>G XP_011510691.1:p.=
XM_011512390.1:c.4984-367A>G XP_011510692.1:p.=
XM_011512391.1:c.4819-367A>G XP_011510693.1:p.=
XM_011512392.1:c.4633-367A>G XP_011510694.1:p.=
XM_011512393.1:c.5089-367A>G XP_011510695.1:p.=
XM_011512394.1:c.5089-367A>G XP_011510696.1:p.=
XM_011512395.1:c.5089-367A>G XP_011510697.1:p.=
XM_011512396.1:c.3514-367A>G XP_011510698.1:p.=
XM_011512397.1:c.2956-367A>G XP_011510699.1:p.=
XM_011512398.1:c.2884-367A>G XP_011510700.1:p.=
XM_011512400.1:c.1906-367A>G XP_011510702.1:p.=
XM_006713487.3:c.5089-367A>G
XM_011512390.2:c.4984-367A>G
XM_011512394.2:c.5089-367A>G
XM_017005676.1:c.5089-367A>G XP_016861165.1:p.=
XM_017005677.1:c.5086-367A>G XP_016861166.1:p.=
XM_017005678.1:c.5089-367A>G XP_016861167.1:p.=
XM_017005679.1:c.4819-367A>G XP_016861168.1:p.=
XM_017005680.1:c.4807-367A>G XP_016861169.1:p.=
XM_017005681.1:c.2476-367A>G XP_016861170.1:p.=
XR_001740000.1:n.5486-367A>G