Canonical Allele Identifier: CA413525891
Gene: MED12 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.71132172A>T , CM000685.2:g.71132172A>T GRCh38
NC_000023.10:g.70352022A>T , CM000685.1:g.70352022A>T GRCh37
NC_000023.9:g.70268747A>T NCBI36
NG_012808.1:g.18617A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000333646.11:c.4099A>T ENSP00000333125.8:p.Met1367Leu
ENST00000374102.6:c.4219A>T ENSP00000363215.2:p.Met1407Leu
ENST00000685182.1:n.852A>T
ENST00000685655.1:c.172A>T ENSP00000509298.1:p.Met58Leu
ENST00000686169.1:n.596A>T
ENST00000686548.1:c.*4115A>T ENSP00000509582.1:n.*4115A>T
ENST00000687161.1:n.934A>T
ENST00000687382.1:c.4219A>T ENSP00000510724.1:p.Met1407Leu
ENST00000687701.1:n.848A>T
ENST00000688079.1:n.2214A>T
ENST00000688663.1:c.*1140A>T ENSP00000509348.1:n.*1140A>T
ENST00000688881.1:n.873A>T
ENST00000688993.1:n.420A>T
ENST00000689768.1:n.2829A>T
ENST00000690145.1:c.4219A>T ENSP00000508818.1:p.Met1407Leu
ENST00000690242.1:c.4219A>T ENSP00000510090.1:p.Met1407Leu
ENST00000690250.1:n.1888A>T
ENST00000690690.1:c.672A>T
ENST00000690828.1:n.4475A>T
ENST00000691113.1:c.2698A>T ENSP00000509755.1:n.2698A>T
ENST00000691426.1:n.3348A>T
ENST00000691468.1:c.4168A>T ENSP00000509011.1:p.Met1390Leu
ENST00000691909.1:n.939A>T
ENST00000692304.1:c.4219A>T ENSP00000508427.1:p.Met1407Leu
ENST00000692893.1:n.1528A>T
ENST00000692964.1:n.883A>T
ENST00000693050.1:n.726A>T
ENST00000693324.1:c.4183A>T ENSP00000508643.1:p.Met1395Leu
ENST00000693391.1:c.2164A>T ENSP00000509563.1:p.Met722Leu
ENST00000374080.8:c.4219A>T MANE Select ENSP00000363193.3:p.Met1407Leu
ENST00000333646.10:c.3760A>T ENSP00000333125.7:p.Met1254Leu
ENST00000374080.7:c.4219A>T ENSP00000363193.3:p.Met1407Leu
ENST00000374102.5:c.4219A>T ENSP00000363215.1:p.Met1407Leu
NM_005120.2:c.4219A>T NP_005111.2:p.Met1407Leu
XM_005262317.1:c.4219A>T XP_005262374.1:p.Met1407Leu
XM_005262319.1:c.4219A>T XP_005262376.1:p.Met1407Leu
NM_005120.3:c.4219A>T MANE Select NP_005111.2:p.Met1407Leu