Canonical Allele Identifier: CA386876124

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116408423C>T (hg19) ; chr12:g.115970618C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115970618C>T , CM000674.2:g.115970618C>T	GRCh38
NC_000012.11:g.116408423C>T , CM000674.1:g.116408423C>T	GRCh37
NC_000012.10:g.114892806C>T	NCBI36
NG_023366.1:g.311569G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.6043G>A MANE Select	ENSP00000281928.3:p.Glu2015Lys
ENST00000548784.2:n.2257G>A
ENST00000648379.1:n.4411G>A
ENST00000648737.1:n.5807G>A
ENST00000648825.1:n.4228G>A
ENST00000648916.1:n.4054G>A
ENST00000649607.1:c.4227G>A
ENST00000649775.1:c.2532G>A
ENST00000650226.1:c.6079G>A	ENSP00000496981.1:p.Glu2027Lys
ENST00000281928.7:c.6043G>A	ENSP00000281928.3:p.Glu2015Lys
NM_015335.4:c.6043G>A	NP_056150.1:p.Glu2015Lys
XM_011538080.1:c.6079G>A	XP_011536382.1:p.Glu2027Lys
XM_011538081.1:c.6076G>A	XP_011536383.1:p.Glu2026Lys
XM_011538082.1:c.6049G>A	XP_011536384.1:p.Glu2017Lys
XM_011538080.2:c.6079G>A	XP_011536382.1:p.Glu2027Lys
XM_011538081.2:c.6076G>A	XP_011536383.1:p.Glu2026Lys
XM_011538082.2:c.6049G>A	XP_011536384.1:p.Glu2017Lys
XM_017019090.1:c.6040G>A	XP_016874579.1:p.Glu2014Lys
NM_015335.5:c.6043G>A MANE Select	NP_056150.1:p.Glu2015Lys