Canonical Allele Identifier: CA481944887

Gene: MED13L

Linked Data

• dbSNP Id: rs1876860111
• MyVariant Identifiers: chr12:g.116413115T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115975310T>G , CM000674.2:g.115975310T>G	GRCh38
NC_000012.11:g.116413115T>G , CM000674.1:g.116413115T>G	GRCh37
NC_000012.10:g.114897498T>G	NCBI36
NG_023366.1:g.306877A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5592A>C MANE Select	ENSP00000281928.3:p.Ser1864=
ENST00000548694.2:n.582A>C
ENST00000648379.1:n.3960A>C
ENST00000648737.1:n.5356A>C
ENST00000648825.1:n.3777A>C
ENST00000648916.1:n.3603A>C
ENST00000649607.1:c.3776A>C
ENST00000649775.1:c.2081A>C
ENST00000650226.1:c.5628A>C	ENSP00000496981.1:p.Ser1876=
ENST00000281928.7:c.5592A>C	ENSP00000281928.3:p.Ser1864=
ENST00000548694.1:n.582A>C
ENST00000552447.1:c.205A>C
NM_015335.4:c.5592A>C	NP_056150.1:p.Ser1864=
XM_011538080.1:c.5628A>C	XP_011536382.1:p.Ser1876=
XM_011538081.1:c.5625A>C	XP_011536383.1:p.Ser1875=
XM_011538082.1:c.5598A>C	XP_011536384.1:p.Ser1866=
XM_011538080.2:c.5628A>C	XP_011536382.1:p.Ser1876=
XM_011538081.2:c.5625A>C	XP_011536383.1:p.Ser1875=
XM_011538082.2:c.5598A>C	XP_011536384.1:p.Ser1866=
XM_017019090.1:c.5589A>C	XP_016874579.1:p.Ser1863=
NM_015335.5:c.5592A>C MANE Select	NP_056150.1:p.Ser1864=