Canonical Allele Identifier: CA2621143229

Gene: MED13L

Linked Data

• gnomAD v4: 12-115970554-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115970554G>A , CM000674.2:g.115970554G>A	GRCh38
NC_000012.11:g.116408359G>A , CM000674.1:g.116408359G>A	GRCh37
NC_000012.10:g.114892742G>A	NCBI36
NG_023366.1:g.311633C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.6067+40C>T MANE Select	ENSP00000281928.3:n.6067+40C>T
ENST00000548784.2:n.2281+40C>T
ENST00000648379.1:n.4435+40C>T
ENST00000648737.1:n.5831+40C>T
ENST00000648825.1:n.4252+40C>T
ENST00000648916.1:n.4078+40C>T
ENST00000649607.1:c.4251+40C>T
ENST00000649775.1:c.2556+40C>T
ENST00000650226.1:c.6103+40C>T	ENSP00000496981.1:n.6103+40C>T
ENST00000281928.7:c.6067+40C>T	ENSP00000281928.3:n.6067+40C>T
NM_015335.4:c.6067+40C>T	NP_056150.1:n.6067+40C>T
XM_011538080.1:c.6103+40C>T	XP_011536382.1:n.6103+40C>T
XM_011538081.1:c.6100+40C>T	XP_011536383.1:n.6100+40C>T
XM_011538082.1:c.6073+40C>T	XP_011536384.1:n.6073+40C>T
XM_011538080.2:c.6103+40C>T	XP_011536382.1:n.6103+40C>T
XM_011538081.2:c.6100+40C>T	XP_011536383.1:n.6100+40C>T
XM_011538082.2:c.6073+40C>T	XP_011536384.1:n.6073+40C>T
XM_017019090.1:c.6064+40C>T	XP_016874579.1:n.6064+40C>T
NM_015335.5:c.6067+40C>T MANE Select	NP_056150.1:n.6067+40C>T