Canonical Allele Identifier: CA482137141

Gene: MED13L

Linked Data

• ClinVar Variation Id: 2149102
• ClinVar RCV Id: RCV003071533
• dbSNP Id: rs1878061921
• MyVariant Identifiers: chr12:g.116429390A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115991585A>G , CM000674.2:g.115991585A>G	GRCh38
NC_000012.11:g.116429390A>G , CM000674.1:g.116429390A>G	GRCh37
NC_000012.10:g.114913773A>G	NCBI36
NG_023366.1:g.290602T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000281928.9:c.3369T>C MANE Select	ENSP00000281928.3:p.Phe1123=
ENST00000549786.2:c.2797T>C
ENST00000648379.1:n.1737T>C
ENST00000648737.1:n.3133T>C
ENST00000648825.1:n.109T>C
ENST00000648916.1:n.1380T>C
ENST00000649607.1:c.1553T>C
ENST00000650226.1:c.3369T>C	ENSP00000496981.1:p.Phe1123=
ENST00000281928.7:c.3369T>C	ENSP00000281928.3:p.Phe1123=
NM_015335.4:c.3369T>C	NP_056150.1:p.Phe1123=
XM_011538080.1:c.3369T>C	XP_011536382.1:p.Phe1123=
XM_011538081.1:c.3366T>C	XP_011536383.1:p.Phe1122=
XM_011538082.1:c.3339T>C	XP_011536384.1:p.Phe1113=
XM_011538080.2:c.3369T>C	XP_011536382.1:p.Phe1123=
XM_011538081.2:c.3366T>C	XP_011536383.1:p.Phe1122=
XM_011538082.2:c.3339T>C	XP_011536384.1:p.Phe1113=
XM_017019090.1:c.3366T>C	XP_016874579.1:p.Phe1122=
NM_015335.5:c.3369T>C MANE Select	NP_056150.1:p.Phe1123=