Canonical Allele Identifier: CA413515970

Gene: MED12

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.71126468T>A , CM000685.2:g.71126468T>A	GRCh38
NC_000023.10:g.70346318T>A , CM000685.1:g.70346318T>A	GRCh37
NC_000023.9:g.70263043T>A	NCBI36
NG_012808.1:g.12913T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_005120.3:c.2669T>A MANE Select	NP_005111.2:p.Ile890Asn
ENST00000374080.8:c.2669T>A MANE Select	ENSP00000363193.3:p.Ile890Asn
NM_005120.2:c.2669T>A	NP_005111.2:p.Ile890Asn
ENST00000333646.10:c.2210T>A	ENSP00000333125.7:p.Ile737Asn
ENST00000333646.11:c.2549T>A	ENSP00000333125.8:p.Ile850Asn
ENST00000374080.7:c.2669T>A	ENSP00000363193.3:p.Ile890Asn
ENST00000374102.5:c.2669T>A	ENSP00000363215.1:p.Ile890Asn
ENST00000374102.6:c.2669T>A	ENSP00000363215.2:p.Ile890Asn
ENST00000462984.1:n.95T>A
ENST00000462984.2:n.514T>A
ENST00000471663.5:n.208T>A
ENST00000686548.1:c.*2565T>A	ENSP00000509582.1:n.*2565T>A
ENST00000687382.1:c.2669T>A	ENSP00000510724.1:p.Ile890Asn
ENST00000688079.1:n.239T>A
ENST00000688663.1:c.2669T>A	ENSP00000509348.1:p.Ile890Asn
ENST00000689008.1:c.*3189T>A	ENSP00000509134.1:n.*3189T>A
ENST00000689768.1:n.1279T>A
ENST00000690145.1:c.2669T>A	ENSP00000508818.1:p.Ile890Asn
ENST00000690242.1:c.2669T>A	ENSP00000510090.1:p.Ile890Asn
ENST00000690828.1:n.2825T>A
ENST00000691113.1:c.614T>A	ENSP00000509755.1:p.Ile205Asn
ENST00000691385.1:n.2133T>A
ENST00000691426.1:n.900T>A
ENST00000691468.1:c.2618T>A	ENSP00000509011.1:p.Ile873Asn
ENST00000692304.1:c.2669T>A	ENSP00000508427.1:p.Ile890Asn
ENST00000693324.1:c.2588T>A	ENSP00000508643.1:p.Ile863Asn
ENST00000693391.1:c.614T>A	ENSP00000509563.1:p.Ile205Asn
XM_005262317.1:c.2669T>A	XP_005262374.1:p.Ile890Asn
XM_005262319.1:c.2669T>A	XP_005262376.1:p.Ile890Asn