Canonical Allele Identifier: CA481943136

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116408412A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115970607A>G , CM000674.2:g.115970607A>G	GRCh38
NC_000012.11:g.116408412A>G , CM000674.1:g.116408412A>G	GRCh37
NC_000012.10:g.114892795A>G	NCBI36
NG_023366.1:g.311580T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000281928.9:c.6054T>C MANE Select	ENSP00000281928.3:p.Phe2018=
ENST00000548784.2:n.2268T>C
ENST00000648379.1:n.4422T>C
ENST00000648737.1:n.5818T>C
ENST00000648825.1:n.4239T>C
ENST00000648916.1:n.4065T>C
ENST00000649607.1:c.4238T>C
ENST00000649775.1:c.2543T>C
ENST00000650226.1:c.6090T>C	ENSP00000496981.1:p.Phe2030=
ENST00000281928.7:c.6054T>C	ENSP00000281928.3:p.Phe2018=
NM_015335.4:c.6054T>C	NP_056150.1:p.Phe2018=
XM_011538080.1:c.6090T>C	XP_011536382.1:p.Phe2030=
XM_011538081.1:c.6087T>C	XP_011536383.1:p.Phe2029=
XM_011538082.1:c.6060T>C	XP_011536384.1:p.Phe2020=
XM_011538080.2:c.6090T>C	XP_011536382.1:p.Phe2030=
XM_011538081.2:c.6087T>C	XP_011536383.1:p.Phe2029=
XM_011538082.2:c.6060T>C	XP_011536384.1:p.Phe2020=
XM_017019090.1:c.6051T>C	XP_016874579.1:p.Phe2017=
NM_015335.5:c.6054T>C MANE Select	NP_056150.1:p.Phe2018=