Canonical Allele Identifier: CA2621143808

Gene: MED13L

Linked Data

• gnomAD v4: 12-115975417-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115975417C>A , CM000674.2:g.115975417C>A	GRCh38
NC_000012.11:g.116413222C>A , CM000674.1:g.116413222C>A	GRCh37
NC_000012.10:g.114897605C>A	NCBI36
NG_023366.1:g.306770G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5588+98G>T MANE Select	ENSP00000281928.3:n.5588+98G>T
ENST00000548694.2:n.475G>T
ENST00000648379.1:n.3956+98G>T
ENST00000648737.1:n.5352+98G>T
ENST00000648825.1:n.3773+98G>T
ENST00000648916.1:n.3599+98G>T
ENST00000649607.1:c.3772+98G>T
ENST00000649775.1:c.2077+98G>T
ENST00000650226.1:c.5589-68G>T	ENSP00000496981.1:n.5589-68G>T
ENST00000281928.7:c.5588+98G>T	ENSP00000281928.3:n.5588+98G>T
ENST00000548694.1:n.475G>T
ENST00000552447.1:c.166-68G>T
NM_015335.4:c.5588+98G>T	NP_056150.1:n.5588+98G>T
XM_011538080.1:c.5589-68G>T	XP_011536382.1:n.5589-68G>T
XM_011538081.1:c.5586-68G>T	XP_011536383.1:n.5586-68G>T
XM_011538082.1:c.5559-68G>T	XP_011536384.1:n.5559-68G>T
XM_011538080.2:c.5589-68G>T	XP_011536382.1:n.5589-68G>T
XM_011538081.2:c.5586-68G>T	XP_011536383.1:n.5586-68G>T
XM_011538082.2:c.5559-68G>T	XP_011536384.1:n.5559-68G>T
XM_017019090.1:c.5585+98G>T	XP_016874579.1:n.5585+98G>T
NM_015335.5:c.5588+98G>T MANE Select	NP_056150.1:n.5588+98G>T