Canonical Allele Identifier: CA684019456

Gene: MED13L

Linked Data

• dbSNP Id: rs1370687179
• MyVariant Identifiers: chr12:g.116408384A>C (hg19) ; chr12:g.115970579A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115970579A>C , CM000674.2:g.115970579A>C	GRCh38
NC_000012.11:g.116408384A>C , CM000674.1:g.116408384A>C	GRCh37
NC_000012.10:g.114892767A>C	NCBI36
NG_023366.1:g.311608T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.6067+15T>G MANE Select	ENSP00000281928.3:n.6067+15T>G
ENST00000548784.2:n.2281+15T>G
ENST00000648379.1:n.4435+15T>G
ENST00000648737.1:n.5831+15T>G
ENST00000648825.1:n.4252+15T>G
ENST00000648916.1:n.4078+15T>G
ENST00000649607.1:c.4251+15T>G
ENST00000649775.1:c.2556+15T>G
ENST00000650226.1:c.6103+15T>G	ENSP00000496981.1:n.6103+15T>G
ENST00000281928.7:c.6067+15T>G	ENSP00000281928.3:n.6067+15T>G
NM_015335.4:c.6067+15T>G	NP_056150.1:n.6067+15T>G
XM_011538080.1:c.6103+15T>G	XP_011536382.1:n.6103+15T>G
XM_011538081.1:c.6100+15T>G	XP_011536383.1:n.6100+15T>G
XM_011538082.1:c.6073+15T>G	XP_011536384.1:n.6073+15T>G
XM_011538080.2:c.6103+15T>G	XP_011536382.1:n.6103+15T>G
XM_011538081.2:c.6100+15T>G	XP_011536383.1:n.6100+15T>G
XM_011538082.2:c.6073+15T>G	XP_011536384.1:n.6073+15T>G
XM_017019090.1:c.6064+15T>G	XP_016874579.1:n.6064+15T>G
NM_015335.5:c.6067+15T>G MANE Select	NP_056150.1:n.6067+15T>G