Canonical Allele Identifier: CA413544080

Gene: MED12

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.71141922C>T , CM000685.2:g.71141922C>T	GRCh38
NC_000023.10:g.70361772C>T , CM000685.1:g.70361772C>T	GRCh37
NC_000023.9:g.70278497C>T	NCBI36
NG_012808.1:g.28367C>T
NG_015874.1:g.2092C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_005120.3:c.6448C>T MANE Select	NP_005111.2:p.Gln2150Ter
ENST00000374080.8:c.6448C>T MANE Select	ENSP00000363193.3:p.Gln2150Ter
NM_005120.2:c.6448C>T	NP_005111.2:p.Gln2150Ter
ENST00000333646.10:c.5998C>T	ENSP00000333125.7:p.Gln2000Ter
ENST00000333646.11:c.6328C>T	ENSP00000333125.8:p.Gln2110Ter
ENST00000374080.7:c.6448C>T	ENSP00000363193.3:p.Gln2150Ter
ENST00000374102.5:c.6445C>T	ENSP00000363215.1:p.Gln2149Ter
ENST00000374102.6:c.6457C>T	ENSP00000363215.2:p.Gln2153Ter
ENST00000444034.2:c.1420C>T	ENSP00000404373.2:p.Gln474Ter
ENST00000685182.1:n.3146C>T
ENST00000686169.1:n.2834C>T
ENST00000686548.1:c.*6353C>T	ENSP00000509582.1:n.*6353C>T
ENST00000687161.1:n.3163C>T
ENST00000687382.1:c.6373C>T	ENSP00000510724.1:p.Gln2125Ter
ENST00000687701.1:n.3207C>T
ENST00000687973.1:n.1121C>T
ENST00000688079.1:n.4443C>T
ENST00000688231.1:c.536C>T
ENST00000688508.1:n.2008C>T
ENST00000689489.1:n.767C>T
ENST00000689768.1:n.5579C>T
ENST00000690145.1:c.6454C>T	ENSP00000508818.1:p.Gln2152Ter
ENST00000690242.1:c.6382C>T	ENSP00000510090.1:p.Gln2128Ter
ENST00000690250.1:n.4051C>T
ENST00000690523.1:n.2558C>T
ENST00000691113.1:c.4927C>T	ENSP00000509755.1:n.4927C>T
ENST00000691426.1:n.5747C>T
ENST00000691909.1:n.3168C>T
ENST00000692304.1:c.6445C>T	ENSP00000508427.1:p.Gln2149Ter
ENST00000692893.1:n.3766C>T
ENST00000693391.1:c.4399C>T	ENSP00000509563.1:p.Gln1467Ter
XM_005262317.1:c.6457C>T	XP_005262374.1:p.Gln2153Ter
XM_005262319.1:c.6382C>T	XP_005262376.1:p.Gln2128Ter