Canonical Allele Identifier: CA386881025

Gene: MED13L

Linked Data

• dbSNP Id: rs1647091726
• gnomAD v4: 12-115982405-C-T
• MyVariant Identifiers: chr12:g.116420210C>T (hg19) ; chr12:g.115982405C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115982405C>T , CM000674.2:g.115982405C>T	GRCh38
NC_000012.11:g.116420210C>T , CM000674.1:g.116420210C>T	GRCh37
NC_000012.10:g.114904593C>T	NCBI36
NG_023366.1:g.299782G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5154G>A MANE Select	ENSP00000281928.3:p.Met1718Ile
ENST00000549786.2:c.4582G>A
ENST00000648379.1:n.3522G>A
ENST00000648737.1:n.4918G>A
ENST00000648825.1:n.1894G>A
ENST00000648916.1:n.3165G>A
ENST00000649146.1:n.2397G>A
ENST00000649607.1:c.3338G>A
ENST00000649775.1:c.1643G>A
ENST00000650226.1:c.5154G>A	ENSP00000496981.1:p.Met1718Ile
ENST00000281928.7:c.5154G>A	ENSP00000281928.3:p.Met1718Ile
ENST00000549786.1:c.518G>A
ENST00000552340.1:c.186G>A	ENSP00000449876.1:p.Met62Ile
NM_015335.4:c.5154G>A	NP_056150.1:p.Met1718Ile
XM_011538080.1:c.5154G>A	XP_011536382.1:p.Met1718Ile
XM_011538081.1:c.5151G>A	XP_011536383.1:p.Met1717Ile
XM_011538082.1:c.5124G>A	XP_011536384.1:p.Met1708Ile
XM_011538080.2:c.5154G>A	XP_011536382.1:p.Met1718Ile
XM_011538081.2:c.5151G>A	XP_011536383.1:p.Met1717Ile
XM_011538082.2:c.5124G>A	XP_011536384.1:p.Met1708Ile
XM_017019090.1:c.5151G>A	XP_016874579.1:p.Met1717Ile
NM_015335.5:c.5154G>A MANE Select	NP_056150.1:p.Met1718Ile