Canonical Allele Identifier: CA386890863

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116435006T>G (hg19) ; chr12:g.115997201T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115997201T>G , CM000674.2:g.115997201T>G	GRCh38
NC_000012.11:g.116435006T>G , CM000674.1:g.116435006T>G	GRCh37
NC_000012.10:g.114919389T>G	NCBI36
NG_023366.1:g.284986A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.2599A>C MANE Select	ENSP00000281928.3:p.Thr867Pro
ENST00000548743.2:c.2569A>C	ENSP00000448553.2:p.Thr857Pro
ENST00000549786.2:c.2027A>C
ENST00000647927.1:n.2972A>C
ENST00000648173.1:n.1394A>C
ENST00000648379.1:n.967A>C
ENST00000648737.1:n.2363A>C
ENST00000648916.1:n.610A>C
ENST00000649607.1:c.783A>C
ENST00000650226.1:c.2599A>C	ENSP00000496981.1:p.Thr867Pro
ENST00000281928.7:c.2599A>C	ENSP00000281928.3:p.Thr867Pro
NM_015335.4:c.2599A>C	NP_056150.1:p.Thr867Pro
XM_011538080.1:c.2599A>C	XP_011536382.1:p.Thr867Pro
XM_011538081.1:c.2596A>C	XP_011536383.1:p.Thr866Pro
XM_011538082.1:c.2569A>C	XP_011536384.1:p.Thr857Pro
XM_011538080.2:c.2599A>C	XP_011536382.1:p.Thr867Pro
XM_011538081.2:c.2596A>C	XP_011536383.1:p.Thr866Pro
XM_011538082.2:c.2569A>C	XP_011536384.1:p.Thr857Pro
XM_017019090.1:c.2596A>C	XP_016874579.1:p.Thr866Pro
NM_015335.5:c.2599A>C MANE Select	NP_056150.1:p.Thr867Pro