Canonical Allele Identifier: CA386881235

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116420301G>T (hg19) ; chr12:g.115982496G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115982496G>T , CM000674.2:g.115982496G>T	GRCh38
NC_000012.11:g.116420301G>T , CM000674.1:g.116420301G>T	GRCh37
NC_000012.10:g.114904684G>T	NCBI36
NG_023366.1:g.299691C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5063C>A MANE Select	ENSP00000281928.3:p.Ala1688Asp
ENST00000549786.2:c.4491C>A
ENST00000648379.1:n.3431C>A
ENST00000648737.1:n.4827C>A
ENST00000648825.1:n.1803C>A
ENST00000648916.1:n.3074C>A
ENST00000649146.1:n.2306C>A
ENST00000649607.1:c.3247C>A
ENST00000649775.1:c.1552C>A
ENST00000650226.1:c.5063C>A	ENSP00000496981.1:p.Ala1688Asp
ENST00000281928.7:c.5063C>A	ENSP00000281928.3:p.Ala1688Asp
ENST00000549786.1:c.427C>A
ENST00000552340.1:c.95C>A	ENSP00000449876.1:p.Ala32Asp
NM_015335.4:c.5063C>A	NP_056150.1:p.Ala1688Asp
XM_011538080.1:c.5063C>A	XP_011536382.1:p.Ala1688Asp
XM_011538081.1:c.5060C>A	XP_011536383.1:p.Ala1687Asp
XM_011538082.1:c.5033C>A	XP_011536384.1:p.Ala1678Asp
XM_011538080.2:c.5063C>A	XP_011536382.1:p.Ala1688Asp
XM_011538081.2:c.5060C>A	XP_011536383.1:p.Ala1687Asp
XM_011538082.2:c.5033C>A	XP_011536384.1:p.Ala1678Asp
XM_017019090.1:c.5060C>A	XP_016874579.1:p.Ala1687Asp
NM_015335.5:c.5063C>A MANE Select	NP_056150.1:p.Ala1688Asp