Canonical Allele Identifier: CA386882251

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116420387T>C (hg19) ; chr12:g.115982582T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115982582T>C , CM000674.2:g.115982582T>C	GRCh38
NC_000012.11:g.116420387T>C , CM000674.1:g.116420387T>C	GRCh37
NC_000012.10:g.114904770T>C	NCBI36
NG_023366.1:g.299605A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.4977A>G MANE Select	ENSP00000281928.3:p.Ile1659Met
ENST00000549786.2:c.4405A>G
ENST00000648379.1:n.3345A>G
ENST00000648737.1:n.4741A>G
ENST00000648825.1:n.1717A>G
ENST00000648916.1:n.2988A>G
ENST00000649146.1:n.2220A>G
ENST00000649607.1:c.3161A>G
ENST00000649775.1:c.1466A>G
ENST00000650226.1:c.4977A>G	ENSP00000496981.1:p.Ile1659Met
ENST00000281928.7:c.4977A>G	ENSP00000281928.3:p.Ile1659Met
ENST00000549786.1:c.341A>G
ENST00000552340.1:c.9A>G	ENSP00000449876.1:p.Ile3Met
NM_015335.4:c.4977A>G	NP_056150.1:p.Ile1659Met
XM_011538080.1:c.4977A>G	XP_011536382.1:p.Ile1659Met
XM_011538081.1:c.4974A>G	XP_011536383.1:p.Ile1658Met
XM_011538082.1:c.4947A>G	XP_011536384.1:p.Ile1649Met
XM_011538080.2:c.4977A>G	XP_011536382.1:p.Ile1659Met
XM_011538081.2:c.4974A>G	XP_011536383.1:p.Ile1658Met
XM_011538082.2:c.4947A>G	XP_011536384.1:p.Ile1649Met
XM_017019090.1:c.4974A>G	XP_016874579.1:p.Ile1658Met
NM_015335.5:c.4977A>G MANE Select	NP_056150.1:p.Ile1659Met