Canonical Allele Identifier: CA386878822

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116413319C>G (hg19) ; chr12:g.115975514C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115975514C>G , CM000674.2:g.115975514C>G	GRCh38
NC_000012.11:g.116413319C>G , CM000674.1:g.116413319C>G	GRCh37
NC_000012.10:g.114897702C>G	NCBI36
NG_023366.1:g.306673G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5588+1G>C MANE Select	ENSP00000281928.3:n.5588+1G>C
ENST00000548694.2:n.378G>C
ENST00000648379.1:n.3956+1G>C
ENST00000648737.1:n.5352+1G>C
ENST00000648825.1:n.3773+1G>C
ENST00000648916.1:n.3599+1G>C
ENST00000649607.1:c.3772+1G>C
ENST00000649775.1:c.2077+1G>C
ENST00000650226.1:c.5588+1G>C	ENSP00000496981.1:n.5588+1G>C
ENST00000281928.7:c.5588+1G>C	ENSP00000281928.3:n.5588+1G>C
ENST00000548694.1:n.378G>C
ENST00000552447.1:c.165+1G>C
NM_015335.4:c.5588+1G>C	NP_056150.1:n.5588+1G>C
XM_011538080.1:c.5588+1G>C	XP_011536382.1:n.5588+1G>C
XM_011538081.1:c.5585+1G>C	XP_011536383.1:n.5585+1G>C
XM_011538082.1:c.5558+1G>C	XP_011536384.1:n.5558+1G>C
XM_011538080.2:c.5588+1G>C	XP_011536382.1:n.5588+1G>C
XM_011538081.2:c.5585+1G>C	XP_011536383.1:n.5585+1G>C
XM_011538082.2:c.5558+1G>C	XP_011536384.1:n.5558+1G>C
XM_017019090.1:c.5585+1G>C	XP_016874579.1:n.5585+1G>C
NM_015335.5:c.5588+1G>C MANE Select	NP_056150.1:n.5588+1G>C