Canonical Allele Identifier: CA386876268

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116408476A>C (hg19) ; chr12:g.115970671A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115970671A>C , CM000674.2:g.115970671A>C	GRCh38
NC_000012.11:g.116408476A>C , CM000674.1:g.116408476A>C	GRCh37
NC_000012.10:g.114892859A>C	NCBI36
NG_023366.1:g.311516T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5990T>G MANE Select	ENSP00000281928.3:p.Leu1997Trp
ENST00000548784.2:n.2204T>G
ENST00000648379.1:n.4358T>G
ENST00000648737.1:n.5754T>G
ENST00000648825.1:n.4175T>G
ENST00000648916.1:n.4001T>G
ENST00000649607.1:c.4174T>G
ENST00000649775.1:c.2479T>G
ENST00000650226.1:c.6026T>G	ENSP00000496981.1:p.Leu2009Trp
ENST00000281928.7:c.5990T>G	ENSP00000281928.3:p.Leu1997Trp
NM_015335.4:c.5990T>G	NP_056150.1:p.Leu1997Trp
XM_011538080.1:c.6026T>G	XP_011536382.1:p.Leu2009Trp
XM_011538081.1:c.6023T>G	XP_011536383.1:p.Leu2008Trp
XM_011538082.1:c.5996T>G	XP_011536384.1:p.Leu1999Trp
XM_011538080.2:c.6026T>G	XP_011536382.1:p.Leu2009Trp
XM_011538081.2:c.6023T>G	XP_011536383.1:p.Leu2008Trp
XM_011538082.2:c.5996T>G	XP_011536384.1:p.Leu1999Trp
XM_017019090.1:c.5987T>G	XP_016874579.1:p.Leu1996Trp
NM_015335.5:c.5990T>G MANE Select	NP_056150.1:p.Leu1997Trp