Canonical Allele Identifier: CA386878218

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116413021C>A (hg19) ; chr12:g.115975216C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115975216C>A , CM000674.2:g.115975216C>A	GRCh38
NC_000012.11:g.116413021C>A , CM000674.1:g.116413021C>A	GRCh37
NC_000012.10:g.114897404C>A	NCBI36
NG_023366.1:g.306971G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5686G>T MANE Select	ENSP00000281928.3:p.Val1896Phe
ENST00000548694.2:n.676G>T
ENST00000648379.1:n.4054G>T
ENST00000648737.1:n.5450G>T
ENST00000648825.1:n.3871G>T
ENST00000648916.1:n.3697G>T
ENST00000649607.1:c.3870G>T
ENST00000649775.1:c.2175G>T
ENST00000650226.1:c.5722G>T	ENSP00000496981.1:p.Val1908Phe
ENST00000281928.7:c.5686G>T	ENSP00000281928.3:p.Val1896Phe
ENST00000548694.1:n.676G>T
ENST00000552447.1:c.299G>T
NM_015335.4:c.5686G>T	NP_056150.1:p.Val1896Phe
XM_011538080.1:c.5722G>T	XP_011536382.1:p.Val1908Phe
XM_011538081.1:c.5719G>T	XP_011536383.1:p.Val1907Phe
XM_011538082.1:c.5692G>T	XP_011536384.1:p.Val1898Phe
XM_011538080.2:c.5722G>T	XP_011536382.1:p.Val1908Phe
XM_011538081.2:c.5719G>T	XP_011536383.1:p.Val1907Phe
XM_011538082.2:c.5692G>T	XP_011536384.1:p.Val1898Phe
XM_017019090.1:c.5683G>T	XP_016874579.1:p.Val1895Phe
NM_015335.5:c.5686G>T MANE Select	NP_056150.1:p.Val1896Phe