Canonical Allele Identifier: CA386876372

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116408500T>C (hg19) ; chr12:g.115970695T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115970695T>C , CM000674.2:g.115970695T>C	GRCh38
NC_000012.11:g.116408500T>C , CM000674.1:g.116408500T>C	GRCh37
NC_000012.10:g.114892883T>C	NCBI36
NG_023366.1:g.311492A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5966A>G MANE Select	ENSP00000281928.3:p.Gln1989Arg
ENST00000548784.2:n.2180A>G
ENST00000648379.1:n.4334A>G
ENST00000648737.1:n.5730A>G
ENST00000648825.1:n.4151A>G
ENST00000648916.1:n.3977A>G
ENST00000649607.1:c.4150A>G
ENST00000649775.1:c.2455A>G
ENST00000650226.1:c.6002A>G	ENSP00000496981.1:p.Gln2001Arg
ENST00000281928.7:c.5966A>G	ENSP00000281928.3:p.Gln1989Arg
ENST00000548784.1:n.464A>G
ENST00000552447.1:c.579A>G
NM_015335.4:c.5966A>G	NP_056150.1:p.Gln1989Arg
XM_011538080.1:c.6002A>G	XP_011536382.1:p.Gln2001Arg
XM_011538081.1:c.5999A>G	XP_011536383.1:p.Gln2000Arg
XM_011538082.1:c.5972A>G	XP_011536384.1:p.Gln1991Arg
XM_011538080.2:c.6002A>G	XP_011536382.1:p.Gln2001Arg
XM_011538081.2:c.5999A>G	XP_011536383.1:p.Gln2000Arg
XM_011538082.2:c.5972A>G	XP_011536384.1:p.Gln1991Arg
XM_017019090.1:c.5963A>G	XP_016874579.1:p.Gln1988Arg
NM_015335.5:c.5966A>G MANE Select	NP_056150.1:p.Gln1989Arg