Canonical Allele Identifier: CA386876610

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116408552A>G (hg19) ; chr12:g.115970747A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115970747A>G , CM000674.2:g.115970747A>G	GRCh38
NC_000012.11:g.116408552A>G , CM000674.1:g.116408552A>G	GRCh37
NC_000012.10:g.114892935A>G	NCBI36
NG_023366.1:g.311440T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5914T>C MANE Select	ENSP00000281928.3:p.Phe1972Leu
ENST00000548784.2:n.2128T>C
ENST00000648379.1:n.4282T>C
ENST00000648737.1:n.5678T>C
ENST00000648825.1:n.4099T>C
ENST00000648916.1:n.3925T>C
ENST00000649607.1:c.4098T>C
ENST00000649775.1:c.2403T>C
ENST00000650226.1:c.5950T>C	ENSP00000496981.1:p.Phe1984Leu
ENST00000281928.7:c.5914T>C	ENSP00000281928.3:p.Phe1972Leu
ENST00000548784.1:n.412T>C
ENST00000552447.1:c.527T>C
NM_015335.4:c.5914T>C	NP_056150.1:p.Phe1972Leu
XM_011538080.1:c.5950T>C	XP_011536382.1:p.Phe1984Leu
XM_011538081.1:c.5947T>C	XP_011536383.1:p.Phe1983Leu
XM_011538082.1:c.5920T>C	XP_011536384.1:p.Phe1974Leu
XM_011538080.2:c.5950T>C	XP_011536382.1:p.Phe1984Leu
XM_011538081.2:c.5947T>C	XP_011536383.1:p.Phe1983Leu
XM_011538082.2:c.5920T>C	XP_011536384.1:p.Phe1974Leu
XM_017019090.1:c.5911T>C	XP_016874579.1:p.Phe1971Leu
NM_015335.5:c.5914T>C MANE Select	NP_056150.1:p.Phe1972Leu