Canonical Allele Identifier: CA386876497

Gene: MED13L

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115970722A>T , CM000674.2:g.115970722A>T	GRCh38
NC_000012.11:g.116408527A>T , CM000674.1:g.116408527A>T	GRCh37
NC_000012.10:g.114892910A>T	NCBI36
NG_023366.1:g.311465T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5939T>A MANE Select	ENSP00000281928.3:p.Met1980Lys
ENST00000548784.2:n.2153T>A
ENST00000648379.1:n.4307T>A
ENST00000648737.1:n.5703T>A
ENST00000648825.1:n.4124T>A
ENST00000648916.1:n.3950T>A
ENST00000649607.1:c.4123T>A
ENST00000649775.1:c.2428T>A
ENST00000650226.1:c.5975T>A	ENSP00000496981.1:p.Met1992Lys
ENST00000281928.7:c.5939T>A	ENSP00000281928.3:p.Met1980Lys
ENST00000548784.1:n.437T>A
ENST00000552447.1:c.552T>A
NM_015335.4:c.5939T>A	NP_056150.1:p.Met1980Lys
XM_011538080.1:c.5975T>A	XP_011536382.1:p.Met1992Lys
XM_011538081.1:c.5972T>A	XP_011536383.1:p.Met1991Lys
XM_011538082.1:c.5945T>A	XP_011536384.1:p.Met1982Lys
XM_011538080.2:c.5975T>A	XP_011536382.1:p.Met1992Lys
XM_011538081.2:c.5972T>A	XP_011536383.1:p.Met1991Lys
XM_011538082.2:c.5945T>A	XP_011536384.1:p.Met1982Lys
XM_017019090.1:c.5936T>A	XP_016874579.1:p.Met1979Lys
NM_015335.5:c.5939T>A MANE Select	NP_056150.1:p.Met1980Lys