Canonical Allele Identifier: CA386927705

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116675498C>G (hg19) ; chr12:g.116237693C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.116237693C>G , CM000674.2:g.116237693C>G	GRCh38
NC_000012.11:g.116675498C>G , CM000674.1:g.116675498C>G	GRCh37
NC_000012.10:g.115159881C>G	NCBI36
NG_023366.1:g.44494G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.85G>C MANE Select	ENSP00000281928.3:p.Gly29Arg
ENST00000548743.2:c.55G>C	ENSP00000448553.2:p.Gly19Arg
ENST00000551197.2:c.35G>C
ENST00000650226.1:c.85G>C	ENSP00000496981.1:p.Gly29Arg
ENST00000650375.1:n.247G>C
ENST00000281928.7:c.85G>C	ENSP00000281928.3:p.Gly29Arg
ENST00000548743.1:c.55G>C	ENSP00000448553.1:p.Gly19Arg
ENST00000551197.1:n.35G>C
NM_015335.4:c.85G>C	NP_056150.1:p.Gly29Arg
XM_011538080.1:c.85G>C	XP_011536382.1:p.Gly29Arg
XM_011538081.1:c.85G>C	XP_011536383.1:p.Gly29Arg
XM_011538082.1:c.55G>C	XP_011536384.1:p.Gly19Arg
XM_011538080.2:c.85G>C	XP_011536382.1:p.Gly29Arg
XM_011538081.2:c.85G>C	XP_011536383.1:p.Gly29Arg
XM_011538082.2:c.55G>C	XP_011536384.1:p.Gly19Arg
XM_017019090.1:c.85G>C	XP_016874579.1:p.Gly29Arg
NM_015335.5:c.85G>C MANE Select	NP_056150.1:p.Gly29Arg