Canonical Allele Identifier: CA386876426

Gene: MED13L

Linked Data

• ClinVar Variation Id: 1699570
• ClinVar RCV Id: RCV002273427
• dbSNP Id: rs2137223609
• MyVariant Identifiers: chr12:g.116408513G>C (hg19) ; chr12:g.115970708G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115970708G>C , CM000674.2:g.115970708G>C	GRCh38
NC_000012.11:g.116408513G>C , CM000674.1:g.116408513G>C	GRCh37
NC_000012.10:g.114892896G>C	NCBI36
NG_023366.1:g.311479C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000281928.9:c.5953C>G MANE Select	ENSP00000281928.3:p.Leu1985Val
ENST00000548784.2:n.2167C>G
ENST00000648379.1:n.4321C>G
ENST00000648737.1:n.5717C>G
ENST00000648825.1:n.4138C>G
ENST00000648916.1:n.3964C>G
ENST00000649607.1:c.4137C>G
ENST00000649775.1:c.2442C>G
ENST00000650226.1:c.5989C>G	ENSP00000496981.1:p.Leu1997Val
ENST00000281928.7:c.5953C>G	ENSP00000281928.3:p.Leu1985Val
ENST00000548784.1:n.451C>G
ENST00000552447.1:c.566C>G
NM_015335.4:c.5953C>G	NP_056150.1:p.Leu1985Val
XM_011538080.1:c.5989C>G	XP_011536382.1:p.Leu1997Val
XM_011538081.1:c.5986C>G	XP_011536383.1:p.Leu1996Val
XM_011538082.1:c.5959C>G	XP_011536384.1:p.Leu1987Val
XM_011538080.2:c.5989C>G	XP_011536382.1:p.Leu1997Val
XM_011538081.2:c.5986C>G	XP_011536383.1:p.Leu1996Val
XM_011538082.2:c.5959C>G	XP_011536384.1:p.Leu1987Val
XM_017019090.1:c.5950C>G	XP_016874579.1:p.Leu1984Val
NM_015335.5:c.5953C>G MANE Select	NP_056150.1:p.Leu1985Val