Canonical Allele Identifier: CA386890225

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116434826C>A (hg19) ; chr12:g.115997021C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115997021C>A , CM000674.2:g.115997021C>A	GRCh38
NC_000012.11:g.116434826C>A , CM000674.1:g.116434826C>A	GRCh37
NC_000012.10:g.114919209C>A	NCBI36
NG_023366.1:g.285166G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.2779G>T MANE Select	ENSP00000281928.3:p.Glu927Ter
ENST00000548743.2:c.2749G>T	ENSP00000448553.2:p.Glu917Ter
ENST00000549786.2:c.2207G>T
ENST00000647927.1:n.3152G>T
ENST00000648173.1:n.1574G>T
ENST00000648379.1:n.1147G>T
ENST00000648737.1:n.2543G>T
ENST00000648916.1:n.790G>T
ENST00000649607.1:c.963G>T
ENST00000650226.1:c.2779G>T	ENSP00000496981.1:p.Glu927Ter
ENST00000281928.7:c.2779G>T	ENSP00000281928.3:p.Glu927Ter
NM_015335.4:c.2779G>T	NP_056150.1:p.Glu927Ter
XM_011538080.1:c.2779G>T	XP_011536382.1:p.Glu927Ter
XM_011538081.1:c.2776G>T	XP_011536383.1:p.Glu926Ter
XM_011538082.1:c.2749G>T	XP_011536384.1:p.Glu917Ter
XM_011538080.2:c.2779G>T	XP_011536382.1:p.Glu927Ter
XM_011538081.2:c.2776G>T	XP_011536383.1:p.Glu926Ter
XM_011538082.2:c.2749G>T	XP_011536384.1:p.Glu917Ter
XM_017019090.1:c.2776G>T	XP_016874579.1:p.Glu926Ter
NM_015335.5:c.2779G>T MANE Select	NP_056150.1:p.Glu927Ter