Canonical Allele Identifier: CA386876435

Gene: MED13L

Linked Data

• ClinVar Variation Id: 1307235
• ClinVar RCV Id: RCV001760653
• dbSNP Id: rs2137223630
• MyVariant Identifiers: chr12:g.116408515T>C (hg19) ; chr12:g.115970710T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115970710T>C , CM000674.2:g.115970710T>C	GRCh38
NC_000012.11:g.116408515T>C , CM000674.1:g.116408515T>C	GRCh37
NC_000012.10:g.114892898T>C	NCBI36
NG_023366.1:g.311477A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000281928.9:c.5951A>G MANE Select	ENSP00000281928.3:p.Gln1984Arg
ENST00000548784.2:n.2165A>G
ENST00000648379.1:n.4319A>G
ENST00000648737.1:n.5715A>G
ENST00000648825.1:n.4136A>G
ENST00000648916.1:n.3962A>G
ENST00000649607.1:c.4135A>G
ENST00000649775.1:c.2440A>G
ENST00000650226.1:c.5987A>G	ENSP00000496981.1:p.Gln1996Arg
ENST00000281928.7:c.5951A>G	ENSP00000281928.3:p.Gln1984Arg
ENST00000548784.1:n.449A>G
ENST00000552447.1:c.564A>G
NM_015335.4:c.5951A>G	NP_056150.1:p.Gln1984Arg
XM_011538080.1:c.5987A>G	XP_011536382.1:p.Gln1996Arg
XM_011538081.1:c.5984A>G	XP_011536383.1:p.Gln1995Arg
XM_011538082.1:c.5957A>G	XP_011536384.1:p.Gln1986Arg
XM_011538080.2:c.5987A>G	XP_011536382.1:p.Gln1996Arg
XM_011538081.2:c.5984A>G	XP_011536383.1:p.Gln1995Arg
XM_011538082.2:c.5957A>G	XP_011536384.1:p.Gln1986Arg
XM_017019090.1:c.5948A>G	XP_016874579.1:p.Gln1983Arg
NM_015335.5:c.5951A>G MANE Select	NP_056150.1:p.Gln1984Arg