Canonical Allele Identifier: CA413515683

Gene: MED12

Linked Data

• ClinVar Variation Id: 431098
• ClinVar RCV Id: RCV000496123
• dbSNP Id: rs1135401775
• MyVariant Identifiers: chrX:g.70346194T>C (hg19) ; chrX:g.71126344T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.71126344T>C , CM000685.2:g.71126344T>C	GRCh38
NC_000023.10:g.70346194T>C , CM000685.1:g.70346194T>C	GRCh37
NC_000023.9:g.70262919T>C	NCBI36
NG_012808.1:g.12789T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000333646.11:c.2425T>C	ENSP00000333125.8:p.Ser809Pro
ENST00000374102.6:c.2545T>C	ENSP00000363215.2:p.Ser849Pro
ENST00000462984.2:n.390T>C
ENST00000686548.1:c.*2441T>C	ENSP00000509582.1:n.*2441T>C
ENST00000687382.1:c.2545T>C	ENSP00000510724.1:p.Ser849Pro
ENST00000688079.1:n.115T>C
ENST00000688663.1:c.2545T>C	ENSP00000509348.1:p.Ser849Pro
ENST00000689008.1:c.*3065T>C	ENSP00000509134.1:n.*3065T>C
ENST00000689768.1:n.1155T>C
ENST00000690145.1:c.2545T>C	ENSP00000508818.1:p.Ser849Pro
ENST00000690242.1:c.2545T>C	ENSP00000510090.1:p.Ser849Pro
ENST00000690828.1:n.2701T>C
ENST00000691113.1:c.490T>C	ENSP00000509755.1:p.Ser164Pro
ENST00000691385.1:n.2009T>C
ENST00000691426.1:n.776T>C
ENST00000691468.1:c.2494T>C	ENSP00000509011.1:p.Ser832Pro
ENST00000692304.1:c.2545T>C	ENSP00000508427.1:p.Ser849Pro
ENST00000693324.1:c.2464T>C	ENSP00000508643.1:p.Ser822Pro
ENST00000693391.1:c.490T>C	ENSP00000509563.1:p.Ser164Pro
ENST00000374080.8:c.2545T>C MANE Select	ENSP00000363193.3:p.Ser849Pro
ENST00000333646.10:c.2086T>C	ENSP00000333125.7:p.Ser696Pro
ENST00000374080.7:c.2545T>C	ENSP00000363193.3:p.Ser849Pro
ENST00000374102.5:c.2545T>C	ENSP00000363215.1:p.Ser849Pro
ENST00000471663.5:n.84T>C
NM_005120.2:c.2545T>C	NP_005111.2:p.Ser849Pro
XM_005262317.1:c.2545T>C	XP_005262374.1:p.Ser849Pro
XM_005262319.1:c.2545T>C	XP_005262376.1:p.Ser849Pro
NM_005120.3:c.2545T>C MANE Select	NP_005111.2:p.Ser849Pro