Canonical Allele Identifier: CA386881125

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116420252C>T (hg19) ; chr12:g.115982447C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115982447C>T , CM000674.2:g.115982447C>T	GRCh38
NC_000012.11:g.116420252C>T , CM000674.1:g.116420252C>T	GRCh37
NC_000012.10:g.114904635C>T	NCBI36
NG_023366.1:g.299740G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5112G>A MANE Select	ENSP00000281928.3:p.Met1704Ile
ENST00000549786.2:c.4540G>A
ENST00000648379.1:n.3480G>A
ENST00000648737.1:n.4876G>A
ENST00000648825.1:n.1852G>A
ENST00000648916.1:n.3123G>A
ENST00000649146.1:n.2355G>A
ENST00000649607.1:c.3296G>A
ENST00000649775.1:c.1601G>A
ENST00000650226.1:c.5112G>A	ENSP00000496981.1:p.Met1704Ile
ENST00000281928.7:c.5112G>A	ENSP00000281928.3:p.Met1704Ile
ENST00000549786.1:c.476G>A
ENST00000552340.1:c.144G>A	ENSP00000449876.1:p.Met48Ile
NM_015335.4:c.5112G>A	NP_056150.1:p.Met1704Ile
XM_011538080.1:c.5112G>A	XP_011536382.1:p.Met1704Ile
XM_011538081.1:c.5109G>A	XP_011536383.1:p.Met1703Ile
XM_011538082.1:c.5082G>A	XP_011536384.1:p.Met1694Ile
XM_011538080.2:c.5112G>A	XP_011536382.1:p.Met1704Ile
XM_011538081.2:c.5109G>A	XP_011536383.1:p.Met1703Ile
XM_011538082.2:c.5082G>A	XP_011536384.1:p.Met1694Ile
XM_017019090.1:c.5109G>A	XP_016874579.1:p.Met1703Ile
NM_015335.5:c.5112G>A MANE Select	NP_056150.1:p.Met1704Ile