Canonical Allele Identifier: CA386881407

Gene: MED13L

Linked Data

• dbSNP Id: rs1385753854
• gnomAD v2: 12-116420372-C-G
• MyVariant Identifiers: chr12:g.116420372C>G (hg19) ; chr12:g.115982567C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115982567C>G , CM000674.2:g.115982567C>G	GRCh38
NC_000012.11:g.116420372C>G , CM000674.1:g.116420372C>G	GRCh37
NC_000012.10:g.114904755C>G	NCBI36
NG_023366.1:g.299620G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.4992G>C MANE Select	ENSP00000281928.3:p.Glu1664Asp
ENST00000549786.2:c.4420G>C
ENST00000648379.1:n.3360G>C
ENST00000648737.1:n.4756G>C
ENST00000648825.1:n.1732G>C
ENST00000648916.1:n.3003G>C
ENST00000649146.1:n.2235G>C
ENST00000649607.1:c.3176G>C
ENST00000649775.1:c.1481G>C
ENST00000650226.1:c.4992G>C	ENSP00000496981.1:p.Glu1664Asp
ENST00000281928.7:c.4992G>C	ENSP00000281928.3:p.Glu1664Asp
ENST00000549786.1:c.356G>C
ENST00000552340.1:c.24G>C	ENSP00000449876.1:p.Glu8Asp
NM_015335.4:c.4992G>C	NP_056150.1:p.Glu1664Asp
XM_011538080.1:c.4992G>C	XP_011536382.1:p.Glu1664Asp
XM_011538081.1:c.4989G>C	XP_011536383.1:p.Glu1663Asp
XM_011538082.1:c.4962G>C	XP_011536384.1:p.Glu1654Asp
XM_011538080.2:c.4992G>C	XP_011536382.1:p.Glu1664Asp
XM_011538081.2:c.4989G>C	XP_011536383.1:p.Glu1663Asp
XM_011538082.2:c.4962G>C	XP_011536384.1:p.Glu1654Asp
XM_017019090.1:c.4989G>C	XP_016874579.1:p.Glu1663Asp
NM_015335.5:c.4992G>C MANE Select	NP_056150.1:p.Glu1664Asp