Canonical Allele Identifier: CA386885056

Gene: MED13L

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115987107A>T , CM000674.2:g.115987107A>T	GRCh38
NC_000012.11:g.116424912A>T , CM000674.1:g.116424912A>T	GRCh37
NC_000012.10:g.114909295A>T	NCBI36
NG_023366.1:g.295080T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.4114+2T>A MANE Select	ENSP00000281928.3:n.4114+2T>A
ENST00000549786.2:c.3542+2T>A
ENST00000648379.1:n.2482+2T>A
ENST00000648737.1:n.3878+2T>A
ENST00000648825.1:n.854+2T>A
ENST00000648916.1:n.2125+2T>A
ENST00000649607.1:c.2298+2T>A
ENST00000649775.1:c.611+2T>A
ENST00000650091.1:n.1473T>A
ENST00000650226.1:c.4114+2T>A	ENSP00000496981.1:n.4114+2T>A
ENST00000281928.7:c.4114+2T>A	ENSP00000281928.3:n.4114+2T>A
NM_015335.4:c.4114+2T>A	NP_056150.1:n.4114+2T>A
XM_011538080.1:c.4114+2T>A	XP_011536382.1:n.4114+2T>A
XM_011538081.1:c.4111+2T>A	XP_011536383.1:n.4111+2T>A
XM_011538082.1:c.4084+2T>A	XP_011536384.1:n.4084+2T>A
XM_011538080.2:c.4114+2T>A	XP_011536382.1:n.4114+2T>A
XM_011538081.2:c.4111+2T>A	XP_011536383.1:n.4111+2T>A
XM_011538082.2:c.4084+2T>A	XP_011536384.1:n.4084+2T>A
XM_017019090.1:c.4111+2T>A	XP_016874579.1:n.4111+2T>A
NM_015335.5:c.4114+2T>A MANE Select	NP_056150.1:n.4114+2T>A