Canonical Allele Identifier: CA386876415

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116408512A>C (hg19) ; chr12:g.115970707A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115970707A>C , CM000674.2:g.115970707A>C	GRCh38
NC_000012.11:g.116408512A>C , CM000674.1:g.116408512A>C	GRCh37
NC_000012.10:g.114892895A>C	NCBI36
NG_023366.1:g.311480T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000281928.9:c.5954T>G MANE Select	ENSP00000281928.3:p.Leu1985Arg
ENST00000548784.2:n.2168T>G
ENST00000648379.1:n.4322T>G
ENST00000648737.1:n.5718T>G
ENST00000648825.1:n.4139T>G
ENST00000648916.1:n.3965T>G
ENST00000649607.1:c.4138T>G
ENST00000649775.1:c.2443T>G
ENST00000650226.1:c.5990T>G	ENSP00000496981.1:p.Leu1997Arg
ENST00000281928.7:c.5954T>G	ENSP00000281928.3:p.Leu1985Arg
ENST00000548784.1:n.452T>G
ENST00000552447.1:c.567T>G
NM_015335.4:c.5954T>G	NP_056150.1:p.Leu1985Arg
XM_011538080.1:c.5990T>G	XP_011536382.1:p.Leu1997Arg
XM_011538081.1:c.5987T>G	XP_011536383.1:p.Leu1996Arg
XM_011538082.1:c.5960T>G	XP_011536384.1:p.Leu1987Arg
XM_011538080.2:c.5990T>G	XP_011536382.1:p.Leu1997Arg
XM_011538081.2:c.5987T>G	XP_011536383.1:p.Leu1996Arg
XM_011538082.2:c.5960T>G	XP_011536384.1:p.Leu1987Arg
XM_017019090.1:c.5951T>G	XP_016874579.1:p.Leu1984Arg
NM_015335.5:c.5954T>G MANE Select	NP_056150.1:p.Leu1985Arg