Canonical Allele Identifier: CA386878855

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116413328T>G (hg19) ; chr12:g.115975523T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115975523T>G , CM000674.2:g.115975523T>G	GRCh38
NC_000012.11:g.116413328T>G , CM000674.1:g.116413328T>G	GRCh37
NC_000012.10:g.114897711T>G	NCBI36
NG_023366.1:g.306664A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5580A>C MANE Select	ENSP00000281928.3:p.Leu1860Phe
ENST00000548694.2:n.369A>C
ENST00000648379.1:n.3948A>C
ENST00000648737.1:n.5344A>C
ENST00000648825.1:n.3765A>C
ENST00000648916.1:n.3591A>C
ENST00000649607.1:c.3764A>C
ENST00000649775.1:c.2069A>C
ENST00000650226.1:c.5580A>C	ENSP00000496981.1:p.Leu1860Phe
ENST00000281928.7:c.5580A>C	ENSP00000281928.3:p.Leu1860Phe
ENST00000548694.1:n.369A>C
ENST00000552447.1:c.157A>C
NM_015335.4:c.5580A>C	NP_056150.1:p.Leu1860Phe
XM_011538080.1:c.5580A>C	XP_011536382.1:p.Leu1860Phe
XM_011538081.1:c.5577A>C	XP_011536383.1:p.Leu1859Phe
XM_011538082.1:c.5550A>C	XP_011536384.1:p.Leu1850Phe
XM_011538080.2:c.5580A>C	XP_011536382.1:p.Leu1860Phe
XM_011538081.2:c.5577A>C	XP_011536383.1:p.Leu1859Phe
XM_011538082.2:c.5550A>C	XP_011536384.1:p.Leu1850Phe
XM_017019090.1:c.5577A>C	XP_016874579.1:p.Leu1859Phe
NM_015335.5:c.5580A>C MANE Select	NP_056150.1:p.Leu1860Phe