Canonical Allele Identifier: CA481947963

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116422172A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115984367A>G , CM000674.2:g.115984367A>G	GRCh38
NC_000012.11:g.116422172A>G , CM000674.1:g.116422172A>G	GRCh37
NC_000012.10:g.114906555A>G	NCBI36
NG_023366.1:g.297820T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.4344T>C MANE Select	ENSP00000281928.3:p.Cys1448=
ENST00000549786.2:c.3772T>C
ENST00000648379.1:n.2712T>C
ENST00000648737.1:n.4108T>C
ENST00000648825.1:n.1084T>C
ENST00000648916.1:n.2355T>C
ENST00000649146.1:n.1074T>C
ENST00000649607.1:c.2528T>C
ENST00000649775.1:c.841T>C
ENST00000650091.1:n.2320T>C
ENST00000650226.1:c.4344T>C	ENSP00000496981.1:p.Cys1448=
ENST00000281928.7:c.4344T>C	ENSP00000281928.3:p.Cys1448=
NM_015335.4:c.4344T>C	NP_056150.1:p.Cys1448=
XM_011538080.1:c.4344T>C	XP_011536382.1:p.Cys1448=
XM_011538081.1:c.4341T>C	XP_011536383.1:p.Cys1447=
XM_011538082.1:c.4314T>C	XP_011536384.1:p.Cys1438=
XM_011538080.2:c.4344T>C	XP_011536382.1:p.Cys1448=
XM_011538081.2:c.4341T>C	XP_011536383.1:p.Cys1447=
XM_011538082.2:c.4314T>C	XP_011536384.1:p.Cys1438=
XM_017019090.1:c.4341T>C	XP_016874579.1:p.Cys1447=
NM_015335.5:c.4344T>C MANE Select	NP_056150.1:p.Cys1448=