Canonical Allele Identifier: CA481942531

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116403947A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115966142A>T , CM000674.2:g.115966142A>T	GRCh38
NC_000012.11:g.116403947A>T , CM000674.1:g.116403947A>T	GRCh37
NC_000012.10:g.114888330A>T	NCBI36
NG_023366.1:g.316045T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000281928.9:c.6327T>A MANE Select	ENSP00000281928.3:p.Leu2109=
ENST00000548784.2:n.2541T>A
ENST00000648379.1:n.4695T>A
ENST00000648737.1:n.6091T>A
ENST00000648762.1:n.1017T>A
ENST00000648825.1:n.4512T>A
ENST00000648916.1:n.4338T>A
ENST00000649607.1:c.4511T>A
ENST00000649775.1:c.2658T>A
ENST00000650226.1:c.6363T>A	ENSP00000496981.1:p.Leu2121=
ENST00000281928.7:c.6327T>A	ENSP00000281928.3:p.Leu2109=
NM_015335.4:c.6327T>A	NP_056150.1:p.Leu2109=
XM_011538080.1:c.6363T>A	XP_011536382.1:p.Leu2121=
XM_011538081.1:c.6360T>A	XP_011536383.1:p.Leu2120=
XM_011538082.1:c.6333T>A	XP_011536384.1:p.Leu2111=
XM_011538080.2:c.6363T>A	XP_011536382.1:p.Leu2121=
XM_011538081.2:c.6360T>A	XP_011536383.1:p.Leu2120=
XM_011538082.2:c.6333T>A	XP_011536384.1:p.Leu2111=
XM_017019090.1:c.6324T>A	XP_016874579.1:p.Leu2108=
NM_015335.5:c.6327T>A MANE Select	NP_056150.1:p.Leu2109=