Canonical Allele Identifier: CA2065387184

Gene: MED13L

Linked Data

• dbSNP Id: rs1592924544

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115991971A>G , CM000674.2:g.115991971A>G	GRCh38
NC_000012.11:g.116429776A>G , CM000674.1:g.116429776A>G	GRCh37
NC_000012.10:g.114914159A>G	NCBI36
NG_023366.1:g.290216T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.2997-14T>C MANE Select	ENSP00000281928.3:n.2997-14T>C
ENST00000548743.2:c.2967-14T>C	ENSP00000448553.2:n.2967-14T>C
ENST00000549786.2:c.2425-14T>C
ENST00000648173.1:n.1792-14T>C
ENST00000648379.1:n.1365-14T>C
ENST00000648737.1:n.2761-14T>C
ENST00000648916.1:n.1008-14T>C
ENST00000649607.1:c.1181-14T>C
ENST00000650226.1:c.2997-14T>C	ENSP00000496981.1:n.2997-14T>C
ENST00000281928.7:c.2997-14T>C	ENSP00000281928.3:n.2997-14T>C
NM_015335.4:c.2997-14T>C	NP_056150.1:n.2997-14T>C
XM_011538080.1:c.2997-14T>C	XP_011536382.1:n.2997-14T>C
XM_011538081.1:c.2994-14T>C	XP_011536383.1:n.2994-14T>C
XM_011538082.1:c.2967-14T>C	XP_011536384.1:n.2967-14T>C
XM_011538080.2:c.2997-14T>C	XP_011536382.1:n.2997-14T>C
XM_011538081.2:c.2994-14T>C	XP_011536383.1:n.2994-14T>C
XM_011538082.2:c.2967-14T>C	XP_011536384.1:n.2967-14T>C
XM_017019090.1:c.2994-14T>C	XP_016874579.1:n.2994-14T>C
NM_015335.5:c.2997-14T>C MANE Select	NP_056150.1:n.2997-14T>C