Canonical Allele Identifier: CA288953

Gene: MED12

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.71121649G>C , CM000685.2:g.71121649G>C	GRCh38
NC_000023.10:g.70341499G>C , CM000685.1:g.70341499G>C	GRCh37
NC_000023.9:g.70258224G>C	NCBI36
NG_012808.1:g.8094G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333646.11:c.934G>C	ENSP00000333125.8:p.Val312Leu
ENST00000374102.6:c.934G>C	ENSP00000363215.2:p.Val312Leu
ENST00000686548.1:c.*830G>C	ENSP00000509582.1:n.*830G>C
ENST00000687382.1:c.934G>C	ENSP00000510724.1:p.Val312Leu
ENST00000688663.1:c.934G>C	ENSP00000509348.1:p.Val312Leu
ENST00000688718.1:n.870G>C
ENST00000689008.1:c.*830G>C	ENSP00000509134.1:n.*830G>C
ENST00000690145.1:c.934G>C	ENSP00000508818.1:p.Val312Leu
ENST00000690242.1:c.934G>C	ENSP00000510090.1:p.Val312Leu
ENST00000690828.1:n.1090G>C
ENST00000691385.1:n.212G>C
ENST00000691468.1:c.934G>C	ENSP00000509011.1:p.Val312Leu
ENST00000692304.1:c.934G>C	ENSP00000508427.1:p.Val312Leu
ENST00000692864.1:c.*830G>C	ENSP00000510321.1:n.*830G>C
ENST00000693324.1:c.934G>C	ENSP00000508643.1:p.Val312Leu
ENST00000374080.8:c.934G>C MANE Select	ENSP00000363193.3:p.Val312Leu
ENST00000333646.10:c.475G>C	ENSP00000333125.7:p.Val159Leu
ENST00000374080.7:c.934G>C	ENSP00000363193.3:p.Val312Leu
ENST00000374102.5:c.934G>C	ENSP00000363215.1:p.Val312Leu
NM_005120.2:c.934G>C	NP_005111.2:p.Val312Leu
XM_005262317.1:c.934G>C	XP_005262374.1:p.Val312Leu
XM_005262319.1:c.934G>C	XP_005262376.1:p.Val312Leu
NM_005120.3:c.934G>C MANE Select	NP_005111.2:p.Val312Leu