Canonical Allele Identifier: CA386881026

Gene: MED13L

Linked Data

• dbSNP Id: rs781385487
• gnomAD v4: 12-115982406-A-C
• MyVariant Identifiers: chr12:g.116420211A>C (hg19) ; chr12:g.115982406A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115982406A>C , CM000674.2:g.115982406A>C	GRCh38
NC_000012.11:g.116420211A>C , CM000674.1:g.116420211A>C	GRCh37
NC_000012.10:g.114904594A>C	NCBI36
NG_023366.1:g.299781T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5153T>G MANE Select	ENSP00000281928.3:p.Met1718Arg
ENST00000549786.2:c.4581T>G
ENST00000648379.1:n.3521T>G
ENST00000648737.1:n.4917T>G
ENST00000648825.1:n.1893T>G
ENST00000648916.1:n.3164T>G
ENST00000649146.1:n.2396T>G
ENST00000649607.1:c.3337T>G
ENST00000649775.1:c.1642T>G
ENST00000650226.1:c.5153T>G	ENSP00000496981.1:p.Met1718Arg
ENST00000281928.7:c.5153T>G	ENSP00000281928.3:p.Met1718Arg
ENST00000549786.1:c.517T>G
ENST00000552340.1:c.185T>G	ENSP00000449876.1:p.Met62Arg
NM_015335.4:c.5153T>G	NP_056150.1:p.Met1718Arg
XM_011538080.1:c.5153T>G	XP_011536382.1:p.Met1718Arg
XM_011538081.1:c.5150T>G	XP_011536383.1:p.Met1717Arg
XM_011538082.1:c.5123T>G	XP_011536384.1:p.Met1708Arg
XM_011538080.2:c.5153T>G	XP_011536382.1:p.Met1718Arg
XM_011538081.2:c.5150T>G	XP_011536383.1:p.Met1717Arg
XM_011538082.2:c.5123T>G	XP_011536384.1:p.Met1708Arg
XM_017019090.1:c.5150T>G	XP_016874579.1:p.Met1717Arg
NM_015335.5:c.5153T>G MANE Select	NP_056150.1:p.Met1718Arg