Canonical Allele Identifier: CA145563

Gene: MED12

Linked Data

• ClinVar Variation Id: 92217
• ClinVar RCV Id: RCV000077836 ; RCV000505562
• dbSNP Id: rs199469669
• gnomAD v4: X-71119403-G-A
• COSMIC: COSM131594 ; COSM145621 ; COSM6444701
• MyVariant Identifiers: chrX:g.70339253G>A (hg19) ; chrX:g.71119403G>A (hg38)
• PubMed: PMID:26822237

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.71119403G>A , CM000685.2:g.71119403G>A	GRCh38
NC_000023.10:g.70339253G>A , CM000685.1:g.70339253G>A	GRCh37
NC_000023.9:g.70255978G>A	NCBI36
NG_012808.1:g.5848G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000333646.11:c.130G>A	ENSP00000333125.8:p.Gly44Ser
ENST00000374102.6:c.130G>A	ENSP00000363215.2:p.Gly44Ser
ENST00000429213.3:c.130G>A	ENSP00000399084.2:p.Gly44Ser
ENST00000686548.1:c.*26G>A	ENSP00000509582.1:n.*26G>A
ENST00000687382.1:c.130G>A	ENSP00000510724.1:p.Gly44Ser
ENST00000688663.1:c.130G>A	ENSP00000509348.1:p.Gly44Ser
ENST00000688718.1:n.66G>A
ENST00000689008.1:c.*26G>A	ENSP00000509134.1:n.*26G>A
ENST00000690145.1:c.130G>A	ENSP00000508818.1:p.Gly44Ser
ENST00000690242.1:c.130G>A	ENSP00000510090.1:p.Gly44Ser
ENST00000690828.1:n.286G>A
ENST00000691468.1:c.130G>A	ENSP00000509011.1:p.Gly44Ser
ENST00000692304.1:c.130G>A	ENSP00000508427.1:p.Gly44Ser
ENST00000692864.1:c.*26G>A	ENSP00000510321.1:n.*26G>A
ENST00000693324.1:c.130G>A	ENSP00000508643.1:p.Gly44Ser
ENST00000374080.8:c.130G>A MANE Select	ENSP00000363193.3:p.Gly44Ser
ENST00000333646.10:c.-330G>A	ENSP00000333125.7:n.-330G>A
ENST00000374080.7:c.130G>A	ENSP00000363193.3:p.Gly44Ser
ENST00000374102.5:c.130G>A	ENSP00000363215.1:p.Gly44Ser
ENST00000429213.2:c.84G>A
NM_005120.2:c.130G>A	NP_005111.2:p.Gly44Ser
XM_005262317.1:c.130G>A	XP_005262374.1:p.Gly44Ser
XM_005262319.1:c.130G>A	XP_005262376.1:p.Gly44Ser
NM_005120.3:c.130G>A MANE Select	NP_005111.2:p.Gly44Ser