Canonical Allele Identifier: CA386876118

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116408421T>A (hg19) ; chr12:g.115970616T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115970616T>A , CM000674.2:g.115970616T>A	GRCh38
NC_000012.11:g.116408421T>A , CM000674.1:g.116408421T>A	GRCh37
NC_000012.10:g.114892804T>A	NCBI36
NG_023366.1:g.311571A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.6045A>T MANE Select	ENSP00000281928.3:p.Glu2015Asp
ENST00000548784.2:n.2259A>T
ENST00000648379.1:n.4413A>T
ENST00000648737.1:n.5809A>T
ENST00000648825.1:n.4230A>T
ENST00000648916.1:n.4056A>T
ENST00000649607.1:c.4229A>T
ENST00000649775.1:c.2534A>T
ENST00000650226.1:c.6081A>T	ENSP00000496981.1:p.Glu2027Asp
ENST00000281928.7:c.6045A>T	ENSP00000281928.3:p.Glu2015Asp
NM_015335.4:c.6045A>T	NP_056150.1:p.Glu2015Asp
XM_011538080.1:c.6081A>T	XP_011536382.1:p.Glu2027Asp
XM_011538081.1:c.6078A>T	XP_011536383.1:p.Glu2026Asp
XM_011538082.1:c.6051A>T	XP_011536384.1:p.Glu2017Asp
XM_011538080.2:c.6081A>T	XP_011536382.1:p.Glu2027Asp
XM_011538081.2:c.6078A>T	XP_011536383.1:p.Glu2026Asp
XM_011538082.2:c.6051A>T	XP_011536384.1:p.Glu2017Asp
XM_017019090.1:c.6042A>T	XP_016874579.1:p.Glu2014Asp
NM_015335.5:c.6045A>T MANE Select	NP_056150.1:p.Glu2015Asp