Canonical Allele Identifier: CA481943245

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116408550A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115970745A>G , CM000674.2:g.115970745A>G	GRCh38
NC_000012.11:g.116408550A>G , CM000674.1:g.116408550A>G	GRCh37
NC_000012.10:g.114892933A>G	NCBI36
NG_023366.1:g.311442T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5916T>C MANE Select	ENSP00000281928.3:p.Phe1972=
ENST00000548784.2:n.2130T>C
ENST00000648379.1:n.4284T>C
ENST00000648737.1:n.5680T>C
ENST00000648825.1:n.4101T>C
ENST00000648916.1:n.3927T>C
ENST00000649607.1:c.4100T>C
ENST00000649775.1:c.2405T>C
ENST00000650226.1:c.5952T>C	ENSP00000496981.1:p.Phe1984=
ENST00000281928.7:c.5916T>C	ENSP00000281928.3:p.Phe1972=
ENST00000548784.1:n.414T>C
ENST00000552447.1:c.529T>C
NM_015335.4:c.5916T>C	NP_056150.1:p.Phe1972=
XM_011538080.1:c.5952T>C	XP_011536382.1:p.Phe1984=
XM_011538081.1:c.5949T>C	XP_011536383.1:p.Phe1983=
XM_011538082.1:c.5922T>C	XP_011536384.1:p.Phe1974=
XM_011538080.2:c.5952T>C	XP_011536382.1:p.Phe1984=
XM_011538081.2:c.5949T>C	XP_011536383.1:p.Phe1983=
XM_011538082.2:c.5922T>C	XP_011536384.1:p.Phe1974=
XM_017019090.1:c.5913T>C	XP_016874579.1:p.Phe1971=
NM_015335.5:c.5916T>C MANE Select	NP_056150.1:p.Phe1972=