Canonical Allele Identifier: CA481949570

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116434938T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115997133T>G , CM000674.2:g.115997133T>G	GRCh38
NC_000012.11:g.116434938T>G , CM000674.1:g.116434938T>G	GRCh37
NC_000012.10:g.114919321T>G	NCBI36
NG_023366.1:g.285054A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.2667A>C MANE Select	ENSP00000281928.3:p.Ser889=
ENST00000548743.2:c.2637A>C	ENSP00000448553.2:p.Ser879=
ENST00000549786.2:c.2095A>C
ENST00000647927.1:n.3040A>C
ENST00000648173.1:n.1462A>C
ENST00000648379.1:n.1035A>C
ENST00000648737.1:n.2431A>C
ENST00000648916.1:n.678A>C
ENST00000649607.1:c.851A>C
ENST00000650226.1:c.2667A>C	ENSP00000496981.1:p.Ser889=
ENST00000281928.7:c.2667A>C	ENSP00000281928.3:p.Ser889=
NM_015335.4:c.2667A>C	NP_056150.1:p.Ser889=
XM_011538080.1:c.2667A>C	XP_011536382.1:p.Ser889=
XM_011538081.1:c.2664A>C	XP_011536383.1:p.Ser888=
XM_011538082.1:c.2637A>C	XP_011536384.1:p.Ser879=
XM_011538080.2:c.2667A>C	XP_011536382.1:p.Ser889=
XM_011538081.2:c.2664A>C	XP_011536383.1:p.Ser888=
XM_011538082.2:c.2637A>C	XP_011536384.1:p.Ser879=
XM_017019090.1:c.2664A>C	XP_016874579.1:p.Ser888=
NM_015335.5:c.2667A>C MANE Select	NP_056150.1:p.Ser889=