Canonical Allele Identifier: CA386876494

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116408527A>C (hg19) ; chr12:g.115970722A>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5939T>G MANE Select	ENSP00000281928.3:p.Met1980Arg
ENST00000548784.2:n.2153T>G
ENST00000648379.1:n.4307T>G
ENST00000648737.1:n.5703T>G
ENST00000648825.1:n.4124T>G
ENST00000648916.1:n.3950T>G
ENST00000649607.1:c.4123T>G
ENST00000649775.1:c.2428T>G
ENST00000650226.1:c.5975T>G	ENSP00000496981.1:p.Met1992Arg
ENST00000281928.7:c.5939T>G	ENSP00000281928.3:p.Met1980Arg
ENST00000548784.1:n.437T>G
ENST00000552447.1:c.552T>G
NM_015335.4:c.5939T>G	NP_056150.1:p.Met1980Arg
XM_011538080.1:c.5975T>G	XP_011536382.1:p.Met1992Arg
XM_011538081.1:c.5972T>G	XP_011536383.1:p.Met1991Arg
XM_011538082.1:c.5945T>G	XP_011536384.1:p.Met1982Arg
XM_011538080.2:c.5975T>G	XP_011536382.1:p.Met1992Arg
XM_011538081.2:c.5972T>G	XP_011536383.1:p.Met1991Arg
XM_011538082.2:c.5945T>G	XP_011536384.1:p.Met1982Arg
XM_017019090.1:c.5936T>G	XP_016874579.1:p.Met1979Arg
NM_015335.5:c.5939T>G MANE Select	NP_056150.1:p.Met1980Arg