Canonical Allele Identifier: CA386880961

Gene: MED13L

Linked Data

• dbSNP Id: rs1403076559
• gnomAD v2: 12-116420194-G-C
• gnomAD v4: 12-115982389-G-C
• MyVariant Identifiers: chr12:g.116420194G>C (hg19) ; chr12:g.115982389G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115982389G>C , CM000674.2:g.115982389G>C	GRCh38
NC_000012.11:g.116420194G>C , CM000674.1:g.116420194G>C	GRCh37
NC_000012.10:g.114904577G>C	NCBI36
NG_023366.1:g.299798C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5170C>G MANE Select	ENSP00000281928.3:p.Leu1724Val
ENST00000549786.2:c.4598C>G
ENST00000648379.1:n.3538C>G
ENST00000648737.1:n.4934C>G
ENST00000648825.1:n.1910C>G
ENST00000648916.1:n.3181C>G
ENST00000649146.1:n.2413C>G
ENST00000649607.1:c.3354C>G
ENST00000649775.1:c.1659C>G
ENST00000650226.1:c.5170C>G	ENSP00000496981.1:p.Leu1724Val
ENST00000281928.7:c.5170C>G	ENSP00000281928.3:p.Leu1724Val
ENST00000549786.1:c.534C>G
ENST00000552340.1:c.202C>G	ENSP00000449876.1:p.Leu68Val
NM_015335.4:c.5170C>G	NP_056150.1:p.Leu1724Val
XM_011538080.1:c.5170C>G	XP_011536382.1:p.Leu1724Val
XM_011538081.1:c.5167C>G	XP_011536383.1:p.Leu1723Val
XM_011538082.1:c.5140C>G	XP_011536384.1:p.Leu1714Val
XM_011538080.2:c.5170C>G	XP_011536382.1:p.Leu1724Val
XM_011538081.2:c.5167C>G	XP_011536383.1:p.Leu1723Val
XM_011538082.2:c.5140C>G	XP_011536384.1:p.Leu1714Val
XM_017019090.1:c.5167C>G	XP_016874579.1:p.Leu1723Val
NM_015335.5:c.5170C>G MANE Select	NP_056150.1:p.Leu1724Val