Canonical Allele Identifier: CA386883635

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116422075T>A (hg19) ; chr12:g.115984270T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115984270T>A , CM000674.2:g.115984270T>A	GRCh38
NC_000012.11:g.116422075T>A , CM000674.1:g.116422075T>A	GRCh37
NC_000012.10:g.114906458T>A	NCBI36
NG_023366.1:g.297917A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000281928.9:c.4441A>T MANE Select	ENSP00000281928.3:p.Ser1481Cys
ENST00000549786.2:c.3869A>T
ENST00000648379.1:n.2809A>T
ENST00000648737.1:n.4205A>T
ENST00000648825.1:n.1181A>T
ENST00000648916.1:n.2452A>T
ENST00000649146.1:n.1171A>T
ENST00000649607.1:c.2625A>T
ENST00000649775.1:c.938A>T
ENST00000650091.1:n.2417A>T
ENST00000650226.1:c.4441A>T	ENSP00000496981.1:p.Ser1481Cys
ENST00000281928.7:c.4441A>T	ENSP00000281928.3:p.Ser1481Cys
NM_015335.4:c.4441A>T	NP_056150.1:p.Ser1481Cys
XM_011538080.1:c.4441A>T	XP_011536382.1:p.Ser1481Cys
XM_011538081.1:c.4438A>T	XP_011536383.1:p.Ser1480Cys
XM_011538082.1:c.4411A>T	XP_011536384.1:p.Ser1471Cys
XM_011538080.2:c.4441A>T	XP_011536382.1:p.Ser1481Cys
XM_011538081.2:c.4438A>T	XP_011536383.1:p.Ser1480Cys
XM_011538082.2:c.4411A>T	XP_011536384.1:p.Ser1471Cys
XM_017019090.1:c.4438A>T	XP_016874579.1:p.Ser1480Cys
NM_015335.5:c.4441A>T MANE Select	NP_056150.1:p.Ser1481Cys