Canonical Allele Identifier: CA413536577

Gene: MED12

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.71137213C>T , CM000685.2:g.71137213C>T	GRCh38
NC_000023.10:g.70357063C>T , CM000685.1:g.70357063C>T	GRCh37
NC_000023.9:g.70273788C>T	NCBI36
NG_012808.1:g.23658C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_005120.3:c.5578C>T MANE Select	NP_005111.2:p.Pro1860Ser
ENST00000374080.8:c.5578C>T MANE Select	ENSP00000363193.3:p.Pro1860Ser
NM_005120.2:c.5578C>T	NP_005111.2:p.Pro1860Ser
ENST00000333646.10:c.5119C>T	ENSP00000333125.7:p.Pro1707Ser
ENST00000333646.11:c.5458C>T	ENSP00000333125.8:p.Pro1820Ser
ENST00000374080.7:c.5578C>T	ENSP00000363193.3:p.Pro1860Ser
ENST00000374102.5:c.5578C>T	ENSP00000363215.1:p.Pro1860Ser
ENST00000374102.6:c.5578C>T	ENSP00000363215.2:p.Pro1860Ser
ENST00000444034.1:c.240C>T
ENST00000444034.2:c.553C>T	ENSP00000404373.2:p.Pro185Ser
ENST00000685082.1:n.152-21C>T
ENST00000685182.1:n.2381C>T
ENST00000686169.1:n.1955C>T
ENST00000686548.1:c.*5474C>T	ENSP00000509582.1:n.*5474C>T
ENST00000687161.1:n.2293C>T
ENST00000687382.1:c.5578C>T	ENSP00000510724.1:p.Pro1860Ser
ENST00000687542.1:n.113C>T
ENST00000687701.1:n.2328C>T
ENST00000687973.1:n.77C>T
ENST00000688079.1:n.3573C>T
ENST00000688508.1:n.1129C>T
ENST00000688663.1:c.*2499C>T	ENSP00000509348.1:n.*2499C>T
ENST00000688774.1:c.526+184C>T	ENSP00000508823.1:n.526+184C>T
ENST00000688881.1:n.2232C>T
ENST00000688993.1:n.1949C>T
ENST00000689768.1:n.4188C>T
ENST00000690145.1:c.5578C>T	ENSP00000508818.1:p.Pro1860Ser
ENST00000690242.1:c.5578C>T	ENSP00000510090.1:p.Pro1860Ser
ENST00000690250.1:n.3247C>T
ENST00000690807.1:c.553C>T	ENSP00000510476.1:p.Pro185Ser
ENST00000690828.1:n.5834C>T
ENST00000691113.1:c.4057C>T	ENSP00000509755.1:n.4057C>T
ENST00000691426.1:n.4877C>T
ENST00000691468.1:c.5527C>T	ENSP00000509011.1:p.Pro1843Ser
ENST00000691909.1:n.2298C>T
ENST00000692304.1:c.5578C>T	ENSP00000508427.1:p.Pro1860Ser
ENST00000692893.1:n.2887C>T
ENST00000692964.1:n.2412C>T
ENST00000693182.1:n.282C>T
ENST00000693324.1:c.5542C>T	ENSP00000508643.1:p.Pro1848Ser
ENST00000693391.1:c.3523C>T	ENSP00000509563.1:p.Pro1175Ser
XM_005262317.1:c.5578C>T	XP_005262374.1:p.Pro1860Ser
XM_005262319.1:c.5578C>T	XP_005262376.1:p.Pro1860Ser