Canonical Allele Identifier: CA481946241

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116420285G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115982480G>C , CM000674.2:g.115982480G>C	GRCh38
NC_000012.11:g.116420285G>C , CM000674.1:g.116420285G>C	GRCh37
NC_000012.10:g.114904668G>C	NCBI36
NG_023366.1:g.299707C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5079C>G MANE Select	ENSP00000281928.3:p.Ser1693=
ENST00000549786.2:c.4507C>G
ENST00000648379.1:n.3447C>G
ENST00000648737.1:n.4843C>G
ENST00000648825.1:n.1819C>G
ENST00000648916.1:n.3090C>G
ENST00000649146.1:n.2322C>G
ENST00000649607.1:c.3263C>G
ENST00000649775.1:c.1568C>G
ENST00000650226.1:c.5079C>G	ENSP00000496981.1:p.Ser1693=
ENST00000281928.7:c.5079C>G	ENSP00000281928.3:p.Ser1693=
ENST00000549786.1:c.443C>G
ENST00000552340.1:c.111C>G	ENSP00000449876.1:p.Ser37=
NM_015335.4:c.5079C>G	NP_056150.1:p.Ser1693=
XM_011538080.1:c.5079C>G	XP_011536382.1:p.Ser1693=
XM_011538081.1:c.5076C>G	XP_011536383.1:p.Ser1692=
XM_011538082.1:c.5049C>G	XP_011536384.1:p.Ser1683=
XM_011538080.2:c.5079C>G	XP_011536382.1:p.Ser1693=
XM_011538081.2:c.5076C>G	XP_011536383.1:p.Ser1692=
XM_011538082.2:c.5049C>G	XP_011536384.1:p.Ser1683=
XM_017019090.1:c.5076C>G	XP_016874579.1:p.Ser1692=
NM_015335.5:c.5079C>G MANE Select	NP_056150.1:p.Ser1693=