Canonical Allele Identifier: CA386876290

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116408481G>C (hg19) ; chr12:g.115970676G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115970676G>C , CM000674.2:g.115970676G>C	GRCh38
NC_000012.11:g.116408481G>C , CM000674.1:g.116408481G>C	GRCh37
NC_000012.10:g.114892864G>C	NCBI36
NG_023366.1:g.311511C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5985C>G MANE Select	ENSP00000281928.3:p.His1995Gln
ENST00000548784.2:n.2199C>G
ENST00000648379.1:n.4353C>G
ENST00000648737.1:n.5749C>G
ENST00000648825.1:n.4170C>G
ENST00000648916.1:n.3996C>G
ENST00000649607.1:c.4169C>G
ENST00000649775.1:c.2474C>G
ENST00000650226.1:c.6021C>G	ENSP00000496981.1:p.His2007Gln
ENST00000281928.7:c.5985C>G	ENSP00000281928.3:p.His1995Gln
ENST00000548784.1:n.483C>G
NM_015335.4:c.5985C>G	NP_056150.1:p.His1995Gln
XM_011538080.1:c.6021C>G	XP_011536382.1:p.His2007Gln
XM_011538081.1:c.6018C>G	XP_011536383.1:p.His2006Gln
XM_011538082.1:c.5991C>G	XP_011536384.1:p.His1997Gln
XM_011538080.2:c.6021C>G	XP_011536382.1:p.His2007Gln
XM_011538081.2:c.6018C>G	XP_011536383.1:p.His2006Gln
XM_011538082.2:c.5991C>G	XP_011536384.1:p.His1997Gln
XM_017019090.1:c.5982C>G	XP_016874579.1:p.His1994Gln
NM_015335.5:c.5985C>G MANE Select	NP_056150.1:p.His1995Gln