Canonical Allele Identifier: CA386883689

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116422098T>G (hg19) ; chr12:g.115984293T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115984293T>G , CM000674.2:g.115984293T>G	GRCh38
NC_000012.11:g.116422098T>G , CM000674.1:g.116422098T>G	GRCh37
NC_000012.10:g.114906481T>G	NCBI36
NG_023366.1:g.297894A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.4418A>C MANE Select	ENSP00000281928.3:p.Gln1473Pro
ENST00000549786.2:c.3846A>C
ENST00000648379.1:n.2786A>C
ENST00000648737.1:n.4182A>C
ENST00000648825.1:n.1158A>C
ENST00000648916.1:n.2429A>C
ENST00000649146.1:n.1148A>C
ENST00000649607.1:c.2602A>C
ENST00000649775.1:c.915A>C
ENST00000650091.1:n.2394A>C
ENST00000650226.1:c.4418A>C	ENSP00000496981.1:p.Gln1473Pro
ENST00000281928.7:c.4418A>C	ENSP00000281928.3:p.Gln1473Pro
NM_015335.4:c.4418A>C	NP_056150.1:p.Gln1473Pro
XM_011538080.1:c.4418A>C	XP_011536382.1:p.Gln1473Pro
XM_011538081.1:c.4415A>C	XP_011536383.1:p.Gln1472Pro
XM_011538082.1:c.4388A>C	XP_011536384.1:p.Gln1463Pro
XM_011538080.2:c.4418A>C	XP_011536382.1:p.Gln1473Pro
XM_011538081.2:c.4415A>C	XP_011536383.1:p.Gln1472Pro
XM_011538082.2:c.4388A>C	XP_011536384.1:p.Gln1463Pro
XM_017019090.1:c.4415A>C	XP_016874579.1:p.Gln1472Pro
NM_015335.5:c.4418A>C MANE Select	NP_056150.1:p.Gln1473Pro