Canonical Allele Identifier: CA386881083

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116420234C>T (hg19) ; chr12:g.115982429C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115982429C>T , CM000674.2:g.115982429C>T	GRCh38
NC_000012.11:g.116420234C>T , CM000674.1:g.116420234C>T	GRCh37
NC_000012.10:g.114904617C>T	NCBI36
NG_023366.1:g.299758G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5130G>A MANE Select	ENSP00000281928.3:p.Met1710Ile
ENST00000549786.2:c.4558G>A
ENST00000648379.1:n.3498G>A
ENST00000648737.1:n.4894G>A
ENST00000648825.1:n.1870G>A
ENST00000648916.1:n.3141G>A
ENST00000649146.1:n.2373G>A
ENST00000649607.1:c.3314G>A
ENST00000649775.1:c.1619G>A
ENST00000650226.1:c.5130G>A	ENSP00000496981.1:p.Met1710Ile
ENST00000281928.7:c.5130G>A	ENSP00000281928.3:p.Met1710Ile
ENST00000549786.1:c.494G>A
ENST00000552340.1:c.162G>A	ENSP00000449876.1:p.Met54Ile
NM_015335.4:c.5130G>A	NP_056150.1:p.Met1710Ile
XM_011538080.1:c.5130G>A	XP_011536382.1:p.Met1710Ile
XM_011538081.1:c.5127G>A	XP_011536383.1:p.Met1709Ile
XM_011538082.1:c.5100G>A	XP_011536384.1:p.Met1700Ile
XM_011538080.2:c.5130G>A	XP_011536382.1:p.Met1710Ile
XM_011538081.2:c.5127G>A	XP_011536383.1:p.Met1709Ile
XM_011538082.2:c.5100G>A	XP_011536384.1:p.Met1700Ile
XM_017019090.1:c.5127G>A	XP_016874579.1:p.Met1709Ile
NM_015335.5:c.5130G>A MANE Select	NP_056150.1:p.Met1710Ile