Canonical Allele Identifier: CA386883655

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116422084C>A (hg19) ; chr12:g.115984279C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115984279C>A , CM000674.2:g.115984279C>A	GRCh38
NC_000012.11:g.116422084C>A , CM000674.1:g.116422084C>A	GRCh37
NC_000012.10:g.114906467C>A	NCBI36
NG_023366.1:g.297908G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.4432G>T MANE Select	ENSP00000281928.3:p.Glu1478Ter
ENST00000549786.2:c.3860G>T
ENST00000648379.1:n.2800G>T
ENST00000648737.1:n.4196G>T
ENST00000648825.1:n.1172G>T
ENST00000648916.1:n.2443G>T
ENST00000649146.1:n.1162G>T
ENST00000649607.1:c.2616G>T
ENST00000649775.1:c.929G>T
ENST00000650091.1:n.2408G>T
ENST00000650226.1:c.4432G>T	ENSP00000496981.1:p.Glu1478Ter
ENST00000281928.7:c.4432G>T	ENSP00000281928.3:p.Glu1478Ter
NM_015335.4:c.4432G>T	NP_056150.1:p.Glu1478Ter
XM_011538080.1:c.4432G>T	XP_011536382.1:p.Glu1478Ter
XM_011538081.1:c.4429G>T	XP_011536383.1:p.Glu1477Ter
XM_011538082.1:c.4402G>T	XP_011536384.1:p.Glu1468Ter
XM_011538080.2:c.4432G>T	XP_011536382.1:p.Glu1478Ter
XM_011538081.2:c.4429G>T	XP_011536383.1:p.Glu1477Ter
XM_011538082.2:c.4402G>T	XP_011536384.1:p.Glu1468Ter
XM_017019090.1:c.4429G>T	XP_016874579.1:p.Glu1477Ter
NM_015335.5:c.4432G>T MANE Select	NP_056150.1:p.Glu1478Ter