Canonical Allele Identifier: CA482137244

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116429477A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115991672A>G , CM000674.2:g.115991672A>G	GRCh38
NC_000012.11:g.116429477A>G , CM000674.1:g.116429477A>G	GRCh37
NC_000012.10:g.114913860A>G	NCBI36
NG_023366.1:g.290515T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.3282T>C MANE Select	ENSP00000281928.3:p.Ser1094=
ENST00000549786.2:c.2710T>C
ENST00000648379.1:n.1650T>C
ENST00000648737.1:n.3046T>C
ENST00000648825.1:n.22T>C
ENST00000648916.1:n.1293T>C
ENST00000649607.1:c.1466T>C
ENST00000650226.1:c.3282T>C	ENSP00000496981.1:p.Ser1094=
ENST00000281928.7:c.3282T>C	ENSP00000281928.3:p.Ser1094=
NM_015335.4:c.3282T>C	NP_056150.1:p.Ser1094=
XM_011538080.1:c.3282T>C	XP_011536382.1:p.Ser1094=
XM_011538081.1:c.3279T>C	XP_011536383.1:p.Ser1093=
XM_011538082.1:c.3252T>C	XP_011536384.1:p.Ser1084=
XM_011538080.2:c.3282T>C	XP_011536382.1:p.Ser1094=
XM_011538081.2:c.3279T>C	XP_011536383.1:p.Ser1093=
XM_011538082.2:c.3252T>C	XP_011536384.1:p.Ser1084=
XM_017019090.1:c.3279T>C	XP_016874579.1:p.Ser1093=
NM_015335.5:c.3282T>C MANE Select	NP_056150.1:p.Ser1094=