Canonical Allele Identifier: CA413525870

Gene: MED12

Linked Data

• MyVariant Identifiers: chrX:g.70352019A>C (hg19) ; chrX:g.71132169A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.71132169A>C , CM000685.2:g.71132169A>C	GRCh38
NC_000023.10:g.70352019A>C , CM000685.1:g.70352019A>C	GRCh37
NC_000023.9:g.70268744A>C	NCBI36
NG_012808.1:g.18614A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000333646.11:c.4096A>C	ENSP00000333125.8:p.Asn1366His
ENST00000374102.6:c.4216A>C	ENSP00000363215.2:p.Asn1406His
ENST00000685182.1:n.849A>C
ENST00000685655.1:c.169A>C	ENSP00000509298.1:p.Asn57His
ENST00000686169.1:n.593A>C
ENST00000686548.1:c.*4112A>C	ENSP00000509582.1:n.*4112A>C
ENST00000687161.1:n.931A>C
ENST00000687382.1:c.4216A>C	ENSP00000510724.1:p.Asn1406His
ENST00000687701.1:n.845A>C
ENST00000688079.1:n.2211A>C
ENST00000688663.1:c.*1137A>C	ENSP00000509348.1:n.*1137A>C
ENST00000688881.1:n.870A>C
ENST00000688993.1:n.417A>C
ENST00000689768.1:n.2826A>C
ENST00000690145.1:c.4216A>C	ENSP00000508818.1:p.Asn1406His
ENST00000690242.1:c.4216A>C	ENSP00000510090.1:p.Asn1406His
ENST00000690250.1:n.1885A>C
ENST00000690690.1:c.669A>C
ENST00000690828.1:n.4472A>C
ENST00000691113.1:c.2695A>C	ENSP00000509755.1:n.2695A>C
ENST00000691426.1:n.3345A>C
ENST00000691468.1:c.4165A>C	ENSP00000509011.1:p.Asn1389His
ENST00000691909.1:n.936A>C
ENST00000692304.1:c.4216A>C	ENSP00000508427.1:p.Asn1406His
ENST00000692893.1:n.1525A>C
ENST00000692964.1:n.880A>C
ENST00000693050.1:n.723A>C
ENST00000693324.1:c.4180A>C	ENSP00000508643.1:p.Asn1394His
ENST00000693391.1:c.2161A>C	ENSP00000509563.1:p.Asn721His
ENST00000374080.8:c.4216A>C MANE Select	ENSP00000363193.3:p.Asn1406His
ENST00000333646.10:c.3757A>C	ENSP00000333125.7:p.Asn1253His
ENST00000374080.7:c.4216A>C	ENSP00000363193.3:p.Asn1406His
ENST00000374102.5:c.4216A>C	ENSP00000363215.1:p.Asn1406His
NM_005120.2:c.4216A>C	NP_005111.2:p.Asn1406His
XM_005262317.1:c.4216A>C	XP_005262374.1:p.Asn1406His
XM_005262319.1:c.4216A>C	XP_005262376.1:p.Asn1406His
NM_005120.3:c.4216A>C MANE Select	NP_005111.2:p.Asn1406His