Canonical Allele Identifier: CA386882343

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116420408A>C (hg19) ; chr12:g.115982603A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115982603A>C , CM000674.2:g.115982603A>C	GRCh38
NC_000012.11:g.116420408A>C , CM000674.1:g.116420408A>C	GRCh37
NC_000012.10:g.114904791A>C	NCBI36
NG_023366.1:g.299584T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.4956T>G MANE Select	ENSP00000281928.3:p.Ser1652Arg
ENST00000549786.2:c.4384T>G
ENST00000648379.1:n.3324T>G
ENST00000648737.1:n.4720T>G
ENST00000648825.1:n.1696T>G
ENST00000648916.1:n.2967T>G
ENST00000649146.1:n.2199T>G
ENST00000649607.1:c.3140T>G
ENST00000649775.1:c.1453-8T>G
ENST00000650226.1:c.4956T>G	ENSP00000496981.1:p.Ser1652Arg
ENST00000281928.7:c.4956T>G	ENSP00000281928.3:p.Ser1652Arg
ENST00000549786.1:c.320T>G
NM_015335.4:c.4956T>G	NP_056150.1:p.Ser1652Arg
XM_011538080.1:c.4956T>G	XP_011536382.1:p.Ser1652Arg
XM_011538081.1:c.4953T>G	XP_011536383.1:p.Ser1651Arg
XM_011538082.1:c.4926T>G	XP_011536384.1:p.Ser1642Arg
XM_011538080.2:c.4956T>G	XP_011536382.1:p.Ser1652Arg
XM_011538081.2:c.4953T>G	XP_011536383.1:p.Ser1651Arg
XM_011538082.2:c.4926T>G	XP_011536384.1:p.Ser1642Arg
XM_017019090.1:c.4953T>G	XP_016874579.1:p.Ser1651Arg
NM_015335.5:c.4956T>G MANE Select	NP_056150.1:p.Ser1652Arg