Canonical Allele Identifier: CA386890847

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116434997A>G (hg19) ; chr12:g.115997192A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115997192A>G , CM000674.2:g.115997192A>G	GRCh38
NC_000012.11:g.116434997A>G , CM000674.1:g.116434997A>G	GRCh37
NC_000012.10:g.114919380A>G	NCBI36
NG_023366.1:g.284995T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.2608T>C MANE Select	ENSP00000281928.3:p.Ser870Pro
ENST00000548743.2:c.2578T>C	ENSP00000448553.2:p.Ser860Pro
ENST00000549786.2:c.2036T>C
ENST00000647927.1:n.2981T>C
ENST00000648173.1:n.1403T>C
ENST00000648379.1:n.976T>C
ENST00000648737.1:n.2372T>C
ENST00000648916.1:n.619T>C
ENST00000649607.1:c.792T>C
ENST00000650226.1:c.2608T>C	ENSP00000496981.1:p.Ser870Pro
ENST00000281928.7:c.2608T>C	ENSP00000281928.3:p.Ser870Pro
NM_015335.4:c.2608T>C	NP_056150.1:p.Ser870Pro
XM_011538080.1:c.2608T>C	XP_011536382.1:p.Ser870Pro
XM_011538081.1:c.2605T>C	XP_011536383.1:p.Ser869Pro
XM_011538082.1:c.2578T>C	XP_011536384.1:p.Ser860Pro
XM_011538080.2:c.2608T>C	XP_011536382.1:p.Ser870Pro
XM_011538081.2:c.2605T>C	XP_011536383.1:p.Ser869Pro
XM_011538082.2:c.2578T>C	XP_011536384.1:p.Ser860Pro
XM_017019090.1:c.2605T>C	XP_016874579.1:p.Ser869Pro
NM_015335.5:c.2608T>C MANE Select	NP_056150.1:p.Ser870Pro