Canonical Allele Identifier: CA386878139

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116412996A>C (hg19) ; chr12:g.115975191A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115975191A>C , CM000674.2:g.115975191A>C	GRCh38
NC_000012.11:g.116412996A>C , CM000674.1:g.116412996A>C	GRCh37
NC_000012.10:g.114897379A>C	NCBI36
NG_023366.1:g.306996T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5711T>G MANE Select	ENSP00000281928.3:p.Leu1904Arg
ENST00000548694.2:n.701T>G
ENST00000648379.1:n.4079T>G
ENST00000648737.1:n.5475T>G
ENST00000648825.1:n.3896T>G
ENST00000648916.1:n.3722T>G
ENST00000649607.1:c.3895T>G
ENST00000649775.1:c.2200T>G
ENST00000650226.1:c.5747T>G	ENSP00000496981.1:p.Leu1916Arg
ENST00000281928.7:c.5711T>G	ENSP00000281928.3:p.Leu1904Arg
ENST00000548694.1:n.701T>G
ENST00000552447.1:c.324T>G
NM_015335.4:c.5711T>G	NP_056150.1:p.Leu1904Arg
XM_011538080.1:c.5747T>G	XP_011536382.1:p.Leu1916Arg
XM_011538081.1:c.5744T>G	XP_011536383.1:p.Leu1915Arg
XM_011538082.1:c.5717T>G	XP_011536384.1:p.Leu1906Arg
XM_011538080.2:c.5747T>G	XP_011536382.1:p.Leu1916Arg
XM_011538081.2:c.5744T>G	XP_011536383.1:p.Leu1915Arg
XM_011538082.2:c.5717T>G	XP_011536384.1:p.Leu1906Arg
XM_017019090.1:c.5708T>G	XP_016874579.1:p.Leu1903Arg
NM_015335.5:c.5711T>G MANE Select	NP_056150.1:p.Leu1904Arg