Canonical Allele Identifier: CA341094
Gene: MED12 HGNC NCBI

Linked Data

ClinVar Variation Id: 11521
ClinVar RCV Id: RCV000012277 RCV001529623 RCV001580265
dbSNP Id: rs80338759
MyVariant Identifiers: chrX:g.70347781A>G (hg19) chrX:g.71127931A>G (hg38)
PubMed: PMID:6711603 PMID:17369503 PMID:18691967 PMID:20301719
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.71127931A>G , CM000685.2:g.71127931A>G GRCh38
NC_000023.10:g.70347781A>G , CM000685.1:g.70347781A>G GRCh37
NC_000023.9:g.70264506A>G NCBI36
NG_012808.1:g.14376A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000333646.11:c.2900A>G ENSP00000333125.8:p.Asn967Ser
ENST00000374102.6:c.3020A>G ENSP00000363215.2:p.Asn1007Ser
ENST00000489199.2:c.39A>G
ENST00000686548.1:c.*2916A>G ENSP00000509582.1:n.*2916A>G
ENST00000687382.1:c.3020A>G ENSP00000510724.1:p.Asn1007Ser
ENST00000688079.1:n.1015A>G
ENST00000688663.1:c.3020A>G ENSP00000509348.1:p.Asn1007Ser
ENST00000689768.1:n.1630A>G
ENST00000690145.1:c.3020A>G ENSP00000508818.1:p.Asn1007Ser
ENST00000690242.1:c.3020A>G ENSP00000510090.1:p.Asn1007Ser
ENST00000690250.1:n.22A>G
ENST00000690828.1:n.3176A>G
ENST00000691113.1:c.1499A>G ENSP00000509755.1:n.1499A>G
ENST00000691426.1:n.1676A>G
ENST00000691468.1:c.2969A>G ENSP00000509011.1:p.Asn990Ser
ENST00000692304.1:c.3020A>G ENSP00000508427.1:p.Asn1007Ser
ENST00000693324.1:c.2984A>G ENSP00000508643.1:p.Asn995Ser
ENST00000693391.1:c.965A>G ENSP00000509563.1:p.Asn322Ser
ENST00000374080.8:c.3020A>G MANE Select ENSP00000363193.3:p.Asn1007Ser
ENST00000333646.10:c.2561A>G ENSP00000333125.7:p.Asn854Ser
ENST00000374080.7:c.3020A>G ENSP00000363193.3:p.Asn1007Ser
ENST00000374102.5:c.3020A>G ENSP00000363215.1:p.Asn1007Ser
NM_005120.2:c.3020A>G NP_005111.2:p.Asn1007Ser
XM_005262317.1:c.3020A>G XP_005262374.1:p.Asn1007Ser
XM_005262319.1:c.3020A>G XP_005262376.1:p.Asn1007Ser
NM_005120.3:c.3020A>G MANE Select NP_005111.2:p.Asn1007Ser
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