Canonical Allele Identifier: CA386881080

Gene: MED13L

Linked Data

• dbSNP Id: rs1318387101
• gnomAD v2: 12-116420233-G-C
• gnomAD v4: 12-115982428-G-C
• MyVariant Identifiers: chr12:g.116420233G>C (hg19) ; chr12:g.115982428G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115982428G>C , CM000674.2:g.115982428G>C	GRCh38
NC_000012.11:g.116420233G>C , CM000674.1:g.116420233G>C	GRCh37
NC_000012.10:g.114904616G>C	NCBI36
NG_023366.1:g.299759C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5131C>G MANE Select	ENSP00000281928.3:p.Leu1711Val
ENST00000549786.2:c.4559C>G
ENST00000648379.1:n.3499C>G
ENST00000648737.1:n.4895C>G
ENST00000648825.1:n.1871C>G
ENST00000648916.1:n.3142C>G
ENST00000649146.1:n.2374C>G
ENST00000649607.1:c.3315C>G
ENST00000649775.1:c.1620C>G
ENST00000650226.1:c.5131C>G	ENSP00000496981.1:p.Leu1711Val
ENST00000281928.7:c.5131C>G	ENSP00000281928.3:p.Leu1711Val
ENST00000549786.1:c.495C>G
ENST00000552340.1:c.163C>G	ENSP00000449876.1:p.Leu55Val
NM_015335.4:c.5131C>G	NP_056150.1:p.Leu1711Val
XM_011538080.1:c.5131C>G	XP_011536382.1:p.Leu1711Val
XM_011538081.1:c.5128C>G	XP_011536383.1:p.Leu1710Val
XM_011538082.1:c.5101C>G	XP_011536384.1:p.Leu1701Val
XM_011538080.2:c.5131C>G	XP_011536382.1:p.Leu1711Val
XM_011538081.2:c.5128C>G	XP_011536383.1:p.Leu1710Val
XM_011538082.2:c.5101C>G	XP_011536384.1:p.Leu1701Val
XM_017019090.1:c.5128C>G	XP_016874579.1:p.Leu1710Val
NM_015335.5:c.5131C>G MANE Select	NP_056150.1:p.Leu1711Val