Canonical Allele Identifier: CA481947962

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116422171T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115984366T>G , CM000674.2:g.115984366T>G	GRCh38
NC_000012.11:g.116422171T>G , CM000674.1:g.116422171T>G	GRCh37
NC_000012.10:g.114906554T>G	NCBI36
NG_023366.1:g.297821A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.4345A>C MANE Select	ENSP00000281928.3:p.Arg1449=
ENST00000549786.2:c.3773A>C
ENST00000648379.1:n.2713A>C
ENST00000648737.1:n.4109A>C
ENST00000648825.1:n.1085A>C
ENST00000648916.1:n.2356A>C
ENST00000649146.1:n.1075A>C
ENST00000649607.1:c.2529A>C
ENST00000649775.1:c.842A>C
ENST00000650091.1:n.2321A>C
ENST00000650226.1:c.4345A>C	ENSP00000496981.1:p.Arg1449=
ENST00000281928.7:c.4345A>C	ENSP00000281928.3:p.Arg1449=
NM_015335.4:c.4345A>C	NP_056150.1:p.Arg1449=
XM_011538080.1:c.4345A>C	XP_011536382.1:p.Arg1449=
XM_011538081.1:c.4342A>C	XP_011536383.1:p.Arg1448=
XM_011538082.1:c.4315A>C	XP_011536384.1:p.Arg1439=
XM_011538080.2:c.4345A>C	XP_011536382.1:p.Arg1449=
XM_011538081.2:c.4342A>C	XP_011536383.1:p.Arg1448=
XM_011538082.2:c.4315A>C	XP_011536384.1:p.Arg1439=
XM_017019090.1:c.4342A>C	XP_016874579.1:p.Arg1448=
NM_015335.5:c.4345A>C MANE Select	NP_056150.1:p.Arg1449=