Canonical Allele Identifier: CA386881275

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116420319A>G (hg19) ; chr12:g.115982514A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115982514A>G , CM000674.2:g.115982514A>G	GRCh38
NC_000012.11:g.116420319A>G , CM000674.1:g.116420319A>G	GRCh37
NC_000012.10:g.114904702A>G	NCBI36
NG_023366.1:g.299673T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5045T>C MANE Select	ENSP00000281928.3:p.Val1682Ala
ENST00000549786.2:c.4473T>C
ENST00000648379.1:n.3413T>C
ENST00000648737.1:n.4809T>C
ENST00000648825.1:n.1785T>C
ENST00000648916.1:n.3056T>C
ENST00000649146.1:n.2288T>C
ENST00000649607.1:c.3229T>C
ENST00000649775.1:c.1534T>C
ENST00000650226.1:c.5045T>C	ENSP00000496981.1:p.Val1682Ala
ENST00000281928.7:c.5045T>C	ENSP00000281928.3:p.Val1682Ala
ENST00000549786.1:c.409T>C
ENST00000552340.1:c.77T>C	ENSP00000449876.1:p.Val26Ala
NM_015335.4:c.5045T>C	NP_056150.1:p.Val1682Ala
XM_011538080.1:c.5045T>C	XP_011536382.1:p.Val1682Ala
XM_011538081.1:c.5042T>C	XP_011536383.1:p.Val1681Ala
XM_011538082.1:c.5015T>C	XP_011536384.1:p.Val1672Ala
XM_011538080.2:c.5045T>C	XP_011536382.1:p.Val1682Ala
XM_011538081.2:c.5042T>C	XP_011536383.1:p.Val1681Ala
XM_011538082.2:c.5015T>C	XP_011536384.1:p.Val1672Ala
XM_017019090.1:c.5042T>C	XP_016874579.1:p.Val1681Ala
NM_015335.5:c.5045T>C MANE Select	NP_056150.1:p.Val1682Ala