Canonical Allele Identifier: CA386888224

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116429446C>A (hg19) ; chr12:g.115991641C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115991641C>A , CM000674.2:g.115991641C>A	GRCh38
NC_000012.11:g.116429446C>A , CM000674.1:g.116429446C>A	GRCh37
NC_000012.10:g.114913829C>A	NCBI36
NG_023366.1:g.290546G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.3313G>T MANE Select	ENSP00000281928.3:p.Glu1105Ter
ENST00000549786.2:c.2741G>T
ENST00000648379.1:n.1681G>T
ENST00000648737.1:n.3077G>T
ENST00000648825.1:n.53G>T
ENST00000648916.1:n.1324G>T
ENST00000649607.1:c.1497G>T
ENST00000650226.1:c.3313G>T	ENSP00000496981.1:p.Glu1105Ter
ENST00000281928.7:c.3313G>T	ENSP00000281928.3:p.Glu1105Ter
NM_015335.4:c.3313G>T	NP_056150.1:p.Glu1105Ter
XM_011538080.1:c.3313G>T	XP_011536382.1:p.Glu1105Ter
XM_011538081.1:c.3310G>T	XP_011536383.1:p.Glu1104Ter
XM_011538082.1:c.3283G>T	XP_011536384.1:p.Glu1095Ter
XM_011538080.2:c.3313G>T	XP_011536382.1:p.Glu1105Ter
XM_011538081.2:c.3310G>T	XP_011536383.1:p.Glu1104Ter
XM_011538082.2:c.3283G>T	XP_011536384.1:p.Glu1095Ter
XM_017019090.1:c.3310G>T	XP_016874579.1:p.Glu1104Ter
NM_015335.5:c.3313G>T MANE Select	NP_056150.1:p.Glu1105Ter