Canonical Allele Identifier: CA413544296

Gene: MED12

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.71141950A>C , CM000685.2:g.71141950A>C	GRCh38
NC_000023.10:g.70361800A>C , CM000685.1:g.70361800A>C	GRCh37
NC_000023.9:g.70278525A>C	NCBI36
NG_012808.1:g.28395A>C
NG_015874.1:g.2120A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_005120.3:c.6476A>C MANE Select	NP_005111.2:p.Gln2159Pro
ENST00000374080.8:c.6476A>C MANE Select	ENSP00000363193.3:p.Gln2159Pro
NM_005120.2:c.6476A>C	NP_005111.2:p.Gln2159Pro
ENST00000333646.10:c.6026A>C	ENSP00000333125.7:p.Gln2009Pro
ENST00000333646.11:c.6356A>C	ENSP00000333125.8:p.Gln2119Pro
ENST00000374080.7:c.6476A>C	ENSP00000363193.3:p.Gln2159Pro
ENST00000374102.5:c.6473A>C	ENSP00000363215.1:p.Gln2158Pro
ENST00000374102.6:c.6485A>C	ENSP00000363215.2:p.Gln2162Pro
ENST00000444034.2:c.1448A>C	ENSP00000404373.2:p.Gln483Pro
ENST00000685182.1:n.3174A>C
ENST00000686169.1:n.2862A>C
ENST00000686548.1:c.*6381A>C	ENSP00000509582.1:n.*6381A>C
ENST00000687161.1:n.3191A>C
ENST00000687382.1:c.6401A>C	ENSP00000510724.1:p.Gln2134Pro
ENST00000687701.1:n.3235A>C
ENST00000687973.1:n.1149A>C
ENST00000688079.1:n.4471A>C
ENST00000688231.1:c.564A>C
ENST00000688508.1:n.2036A>C
ENST00000689489.1:n.795A>C
ENST00000689768.1:n.5607A>C
ENST00000690145.1:c.6482A>C	ENSP00000508818.1:p.Gln2161Pro
ENST00000690242.1:c.6410A>C	ENSP00000510090.1:p.Gln2137Pro
ENST00000690250.1:n.4079A>C
ENST00000690523.1:n.2586A>C
ENST00000691113.1:c.4955A>C	ENSP00000509755.1:n.4955A>C
ENST00000691426.1:n.5775A>C
ENST00000691909.1:n.3196A>C
ENST00000692304.1:c.6473A>C	ENSP00000508427.1:p.Gln2158Pro
ENST00000692893.1:n.3794A>C
ENST00000693391.1:c.4427A>C	ENSP00000509563.1:p.Gln1476Pro
XM_005262317.1:c.6485A>C	XP_005262374.1:p.Gln2162Pro
XM_005262319.1:c.6410A>C	XP_005262376.1:p.Gln2137Pro