Canonical Allele Identifier: CA386883659

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116422085A>T (hg19) ; chr12:g.115984280A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115984280A>T , CM000674.2:g.115984280A>T	GRCh38
NC_000012.11:g.116422085A>T , CM000674.1:g.116422085A>T	GRCh37
NC_000012.10:g.114906468A>T	NCBI36
NG_023366.1:g.297907T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.4431T>A MANE Select	ENSP00000281928.3:p.Asp1477Glu
ENST00000549786.2:c.3859T>A
ENST00000648379.1:n.2799T>A
ENST00000648737.1:n.4195T>A
ENST00000648825.1:n.1171T>A
ENST00000648916.1:n.2442T>A
ENST00000649146.1:n.1161T>A
ENST00000649607.1:c.2615T>A
ENST00000649775.1:c.928T>A
ENST00000650091.1:n.2407T>A
ENST00000650226.1:c.4431T>A	ENSP00000496981.1:p.Asp1477Glu
ENST00000281928.7:c.4431T>A	ENSP00000281928.3:p.Asp1477Glu
NM_015335.4:c.4431T>A	NP_056150.1:p.Asp1477Glu
XM_011538080.1:c.4431T>A	XP_011536382.1:p.Asp1477Glu
XM_011538081.1:c.4428T>A	XP_011536383.1:p.Asp1476Glu
XM_011538082.1:c.4401T>A	XP_011536384.1:p.Asp1467Glu
XM_011538080.2:c.4431T>A	XP_011536382.1:p.Asp1477Glu
XM_011538081.2:c.4428T>A	XP_011536383.1:p.Asp1476Glu
XM_011538082.2:c.4401T>A	XP_011536384.1:p.Asp1467Glu
XM_017019090.1:c.4428T>A	XP_016874579.1:p.Asp1476Glu
NM_015335.5:c.4431T>A MANE Select	NP_056150.1:p.Asp1477Glu