Canonical Allele Identifier: CA6810622

Gene: MED13L

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115980806A>G , CM000674.2:g.115980806A>G	GRCh38
NC_000012.11:g.116418611A>G , CM000674.1:g.116418611A>G	GRCh37
NC_000012.10:g.114902994A>G	NCBI36
NG_023366.1:g.301381T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5308T>C MANE Select	ENSP00000281928.3:p.Ser1770Pro
ENST00000548694.2:n.97T>C
ENST00000648379.1:n.3676T>C
ENST00000648737.1:n.5072T>C
ENST00000648825.1:n.3493T>C
ENST00000648916.1:n.3319T>C
ENST00000649378.1:n.499T>C
ENST00000649607.1:c.3492T>C
ENST00000649775.1:c.1797T>C
ENST00000650226.1:c.5308T>C	ENSP00000496981.1:p.Ser1770Pro
ENST00000281928.7:c.5308T>C	ENSP00000281928.3:p.Ser1770Pro
ENST00000548694.1:n.97T>C
ENST00000552340.1:c.340T>C	ENSP00000449876.1:p.Ser114Pro
NM_015335.4:c.5308T>C	NP_056150.1:p.Ser1770Pro
XM_011538080.1:c.5308T>C	XP_011536382.1:p.Ser1770Pro
XM_011538081.1:c.5305T>C	XP_011536383.1:p.Ser1769Pro
XM_011538082.1:c.5278T>C	XP_011536384.1:p.Ser1760Pro
XM_011538080.2:c.5308T>C	XP_011536382.1:p.Ser1770Pro
XM_011538081.2:c.5305T>C	XP_011536383.1:p.Ser1769Pro
XM_011538082.2:c.5278T>C	XP_011536384.1:p.Ser1760Pro
XM_017019090.1:c.5305T>C	XP_016874579.1:p.Ser1769Pro
NM_015335.5:c.5308T>C MANE Select	NP_056150.1:p.Ser1770Pro