Canonical Allele Identifier: CA386890911

Gene: MED13L

Linked Data

• ClinVar Variation Id: 427897
• ClinVar RCV Id: RCV000515945 ; RCV000687468 ; RCV001537450
• dbSNP Id: rs1555246154
• MyVariant Identifiers: chr12:g.116435026T>C (hg19) ; chr12:g.115997221T>C (hg38)
• PubMed: PMID:28645799

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115997221T>C , CM000674.2:g.115997221T>C	GRCh38
NC_000012.11:g.116435026T>C , CM000674.1:g.116435026T>C	GRCh37
NC_000012.10:g.114919409T>C	NCBI36
NG_023366.1:g.284966A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.2579A>G MANE Select	ENSP00000281928.3:p.Asp860Gly
ENST00000548743.2:c.2549A>G	ENSP00000448553.2:p.Asp850Gly
ENST00000549786.2:c.2007A>G
ENST00000647927.1:n.2952A>G
ENST00000648173.1:n.1374A>G
ENST00000648379.1:n.947A>G
ENST00000648737.1:n.2343A>G
ENST00000648916.1:n.590A>G
ENST00000649607.1:c.763A>G
ENST00000650226.1:c.2579A>G	ENSP00000496981.1:p.Asp860Gly
ENST00000281928.7:c.2579A>G	ENSP00000281928.3:p.Asp860Gly
NM_015335.4:c.2579A>G	NP_056150.1:p.Asp860Gly
XM_011538080.1:c.2579A>G	XP_011536382.1:p.Asp860Gly
XM_011538081.1:c.2576A>G	XP_011536383.1:p.Asp859Gly
XM_011538082.1:c.2549A>G	XP_011536384.1:p.Asp850Gly
XM_011538080.2:c.2579A>G	XP_011536382.1:p.Asp860Gly
XM_011538081.2:c.2576A>G	XP_011536383.1:p.Asp859Gly
XM_011538082.2:c.2549A>G	XP_011536384.1:p.Asp850Gly
XM_017019090.1:c.2576A>G	XP_016874579.1:p.Asp859Gly
NM_015335.5:c.2579A>G MANE Select	NP_056150.1:p.Asp860Gly