Canonical Allele Identifier: CA386883636

Gene: MED13L

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000281928.9:c.4441A>G MANE Select	ENSP00000281928.3:p.Ser1481Gly
ENST00000549786.2:c.3869A>G
ENST00000648379.1:n.2809A>G
ENST00000648737.1:n.4205A>G
ENST00000648825.1:n.1181A>G
ENST00000648916.1:n.2452A>G
ENST00000649146.1:n.1171A>G
ENST00000649607.1:c.2625A>G
ENST00000649775.1:c.938A>G
ENST00000650091.1:n.2417A>G
ENST00000650226.1:c.4441A>G	ENSP00000496981.1:p.Ser1481Gly
ENST00000281928.7:c.4441A>G	ENSP00000281928.3:p.Ser1481Gly
NM_015335.4:c.4441A>G	NP_056150.1:p.Ser1481Gly
XM_011538080.1:c.4441A>G	XP_011536382.1:p.Ser1481Gly
XM_011538081.1:c.4438A>G	XP_011536383.1:p.Ser1480Gly
XM_011538082.1:c.4411A>G	XP_011536384.1:p.Ser1471Gly
XM_011538080.2:c.4441A>G	XP_011536382.1:p.Ser1481Gly
XM_011538081.2:c.4438A>G	XP_011536383.1:p.Ser1480Gly
XM_011538082.2:c.4411A>G	XP_011536384.1:p.Ser1471Gly
XM_017019090.1:c.4438A>G	XP_016874579.1:p.Ser1480Gly
NM_015335.5:c.4441A>G MANE Select	NP_056150.1:p.Ser1481Gly