Canonical Allele Identifier: CA386878831

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116413321T>A (hg19) ; chr12:g.115975516T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115975516T>A , CM000674.2:g.115975516T>A	GRCh38
NC_000012.11:g.116413321T>A , CM000674.1:g.116413321T>A	GRCh37
NC_000012.10:g.114897704T>A	NCBI36
NG_023366.1:g.306671A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5587A>T MANE Select	ENSP00000281928.3:p.Arg1863Trp
ENST00000548694.2:n.376A>T
ENST00000648379.1:n.3955A>T
ENST00000648737.1:n.5351A>T
ENST00000648825.1:n.3772A>T
ENST00000648916.1:n.3598A>T
ENST00000649607.1:c.3771A>T
ENST00000649775.1:c.2076A>T
ENST00000650226.1:c.5587A>T	ENSP00000496981.1:p.Arg1863Trp
ENST00000281928.7:c.5587A>T	ENSP00000281928.3:p.Arg1863Trp
ENST00000548694.1:n.376A>T
ENST00000552447.1:c.164A>T
NM_015335.4:c.5587A>T	NP_056150.1:p.Arg1863Trp
XM_011538080.1:c.5587A>T	XP_011536382.1:p.Arg1863Trp
XM_011538081.1:c.5584A>T	XP_011536383.1:p.Arg1862Trp
XM_011538082.1:c.5557A>T	XP_011536384.1:p.Arg1853Trp
XM_011538080.2:c.5587A>T	XP_011536382.1:p.Arg1863Trp
XM_011538081.2:c.5584A>T	XP_011536383.1:p.Arg1862Trp
XM_011538082.2:c.5557A>T	XP_011536384.1:p.Arg1853Trp
XM_017019090.1:c.5584A>T	XP_016874579.1:p.Arg1862Trp
NM_015335.5:c.5587A>T MANE Select	NP_056150.1:p.Arg1863Trp