Canonical Allele Identifier: CA2727360274

Gene: MED13L

Linked Data

• dbSNP Id: rs2137243115

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115975487A>G , CM000674.2:g.115975487A>G	GRCh38
NC_000012.11:g.116413292A>G , CM000674.1:g.116413292A>G	GRCh37
NC_000012.10:g.114897675A>G	NCBI36
NG_023366.1:g.306700T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5588+28T>C MANE Select	ENSP00000281928.3:n.5588+28T>C
ENST00000548694.2:n.405T>C
ENST00000648379.1:n.3956+28T>C
ENST00000648737.1:n.5352+28T>C
ENST00000648825.1:n.3773+28T>C
ENST00000648916.1:n.3599+28T>C
ENST00000649607.1:c.3772+28T>C
ENST00000649775.1:c.2077+28T>C
ENST00000650226.1:c.5588+28T>C	ENSP00000496981.1:n.5588+28T>C
ENST00000281928.7:c.5588+28T>C	ENSP00000281928.3:n.5588+28T>C
ENST00000548694.1:n.405T>C
ENST00000552447.1:c.165+28T>C
NM_015335.4:c.5588+28T>C	NP_056150.1:n.5588+28T>C
XM_011538080.1:c.5588+28T>C	XP_011536382.1:n.5588+28T>C
XM_011538081.1:c.5585+28T>C	XP_011536383.1:n.5585+28T>C
XM_011538082.1:c.5558+28T>C	XP_011536384.1:n.5558+28T>C
XM_011538080.2:c.5588+28T>C	XP_011536382.1:n.5588+28T>C
XM_011538081.2:c.5585+28T>C	XP_011536383.1:n.5585+28T>C
XM_011538082.2:c.5558+28T>C	XP_011536384.1:n.5558+28T>C
XM_017019090.1:c.5585+28T>C	XP_016874579.1:n.5585+28T>C
NM_015335.5:c.5588+28T>C MANE Select	NP_056150.1:n.5588+28T>C