Canonical Allele Identifier: CA386887867

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116429372G>T (hg19) ; chr12:g.115991567G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115991567G>T , CM000674.2:g.115991567G>T	GRCh38
NC_000012.11:g.116429372G>T , CM000674.1:g.116429372G>T	GRCh37
NC_000012.10:g.114913755G>T	NCBI36
NG_023366.1:g.290620C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.3387C>A MANE Select	ENSP00000281928.3:p.Asp1129Glu
ENST00000549786.2:c.2815C>A
ENST00000648379.1:n.1755C>A
ENST00000648737.1:n.3151C>A
ENST00000648825.1:n.127C>A
ENST00000648916.1:n.1398C>A
ENST00000649607.1:c.1571C>A
ENST00000650226.1:c.3387C>A	ENSP00000496981.1:p.Asp1129Glu
ENST00000281928.7:c.3387C>A	ENSP00000281928.3:p.Asp1129Glu
NM_015335.4:c.3387C>A	NP_056150.1:p.Asp1129Glu
XM_011538080.1:c.3387C>A	XP_011536382.1:p.Asp1129Glu
XM_011538081.1:c.3384C>A	XP_011536383.1:p.Asp1128Glu
XM_011538082.1:c.3357C>A	XP_011536384.1:p.Asp1119Glu
XM_011538080.2:c.3387C>A	XP_011536382.1:p.Asp1129Glu
XM_011538081.2:c.3384C>A	XP_011536383.1:p.Asp1128Glu
XM_011538082.2:c.3357C>A	XP_011536384.1:p.Asp1119Glu
XM_017019090.1:c.3384C>A	XP_016874579.1:p.Asp1128Glu
NM_015335.5:c.3387C>A MANE Select	NP_056150.1:p.Asp1129Glu