Canonical Allele Identifier: CA386890813

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116434983A>C (hg19) ; chr12:g.115997178A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115997178A>C , CM000674.2:g.115997178A>C	GRCh38
NC_000012.11:g.116434983A>C , CM000674.1:g.116434983A>C	GRCh37
NC_000012.10:g.114919366A>C	NCBI36
NG_023366.1:g.285009T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.2622T>G MANE Select	ENSP00000281928.3:p.His874Gln
ENST00000548743.2:c.2592T>G	ENSP00000448553.2:p.His864Gln
ENST00000549786.2:c.2050T>G
ENST00000647927.1:n.2995T>G
ENST00000648173.1:n.1417T>G
ENST00000648379.1:n.990T>G
ENST00000648737.1:n.2386T>G
ENST00000648916.1:n.633T>G
ENST00000649607.1:c.806T>G
ENST00000650226.1:c.2622T>G	ENSP00000496981.1:p.His874Gln
ENST00000281928.7:c.2622T>G	ENSP00000281928.3:p.His874Gln
NM_015335.4:c.2622T>G	NP_056150.1:p.His874Gln
XM_011538080.1:c.2622T>G	XP_011536382.1:p.His874Gln
XM_011538081.1:c.2619T>G	XP_011536383.1:p.His873Gln
XM_011538082.1:c.2592T>G	XP_011536384.1:p.His864Gln
XM_011538080.2:c.2622T>G	XP_011536382.1:p.His874Gln
XM_011538081.2:c.2619T>G	XP_011536383.1:p.His873Gln
XM_011538082.2:c.2592T>G	XP_011536384.1:p.His864Gln
XM_017019090.1:c.2619T>G	XP_016874579.1:p.His873Gln
NM_015335.5:c.2622T>G MANE Select	NP_056150.1:p.His874Gln