Canonical Allele Identifier: CA10444606

Gene: MED12

Linked Data

• dbSNP Id: rs751061930
• ExAC: X:70352021 C / T
• gnomAD v4: X-71132171-C-T
• MyVariant Identifiers: chrX:g.70352021C>T (hg19) ; chrX:g.71132171C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.71132171C>T , CM000685.2:g.71132171C>T	GRCh38
NC_000023.10:g.70352021C>T , CM000685.1:g.70352021C>T	GRCh37
NC_000023.9:g.70268746C>T	NCBI36
NG_012808.1:g.18616C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333646.11:c.4098C>T	ENSP00000333125.8:p.Asn1366=
ENST00000374102.6:c.4218C>T	ENSP00000363215.2:p.Asn1406=
ENST00000685182.1:n.851C>T
ENST00000685655.1:c.171C>T	ENSP00000509298.1:p.Asn57=
ENST00000686169.1:n.595C>T
ENST00000686548.1:c.*4114C>T	ENSP00000509582.1:n.*4114C>T
ENST00000687161.1:n.933C>T
ENST00000687382.1:c.4218C>T	ENSP00000510724.1:p.Asn1406=
ENST00000687701.1:n.847C>T
ENST00000688079.1:n.2213C>T
ENST00000688663.1:c.*1139C>T	ENSP00000509348.1:n.*1139C>T
ENST00000688881.1:n.872C>T
ENST00000688993.1:n.419C>T
ENST00000689768.1:n.2828C>T
ENST00000690145.1:c.4218C>T	ENSP00000508818.1:p.Asn1406=
ENST00000690242.1:c.4218C>T	ENSP00000510090.1:p.Asn1406=
ENST00000690250.1:n.1887C>T
ENST00000690690.1:c.671C>T
ENST00000690828.1:n.4474C>T
ENST00000691113.1:c.2697C>T	ENSP00000509755.1:n.2697C>T
ENST00000691426.1:n.3347C>T
ENST00000691468.1:c.4167C>T	ENSP00000509011.1:p.Asn1389=
ENST00000691909.1:n.938C>T
ENST00000692304.1:c.4218C>T	ENSP00000508427.1:p.Asn1406=
ENST00000692893.1:n.1527C>T
ENST00000692964.1:n.882C>T
ENST00000693050.1:n.725C>T
ENST00000693324.1:c.4182C>T	ENSP00000508643.1:p.Asn1394=
ENST00000693391.1:c.2163C>T	ENSP00000509563.1:p.Asn721=
ENST00000374080.8:c.4218C>T MANE Select	ENSP00000363193.3:p.Asn1406=
ENST00000333646.10:c.3759C>T	ENSP00000333125.7:p.Asn1253=
ENST00000374080.7:c.4218C>T	ENSP00000363193.3:p.Asn1406=
ENST00000374102.5:c.4218C>T	ENSP00000363215.1:p.Asn1406=
NM_005120.2:c.4218C>T	NP_005111.2:p.Asn1406=
XM_005262317.1:c.4218C>T	XP_005262374.1:p.Asn1406=
XM_005262319.1:c.4218C>T	XP_005262376.1:p.Asn1406=
NM_005120.3:c.4218C>T MANE Select	NP_005111.2:p.Asn1406=