Canonical Allele Identifier: CA952185294

Gene: MED13L

Linked Data

• dbSNP Id: rs1876875850
• gnomAD v3: 12-115975504-A-T
• gnomAD v4: 12-115975504-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115975504A>T , CM000674.2:g.115975504A>T	GRCh38
NC_000012.11:g.116413309A>T , CM000674.1:g.116413309A>T	GRCh37
NC_000012.10:g.114897692A>T	NCBI36
NG_023366.1:g.306683T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5588+11T>A MANE Select	ENSP00000281928.3:n.5588+11T>A
ENST00000548694.2:n.388T>A
ENST00000648379.1:n.3956+11T>A
ENST00000648737.1:n.5352+11T>A
ENST00000648825.1:n.3773+11T>A
ENST00000648916.1:n.3599+11T>A
ENST00000649607.1:c.3772+11T>A
ENST00000649775.1:c.2077+11T>A
ENST00000650226.1:c.5588+11T>A	ENSP00000496981.1:n.5588+11T>A
ENST00000281928.7:c.5588+11T>A	ENSP00000281928.3:n.5588+11T>A
ENST00000548694.1:n.388T>A
ENST00000552447.1:c.165+11T>A
NM_015335.4:c.5588+11T>A	NP_056150.1:n.5588+11T>A
XM_011538080.1:c.5588+11T>A	XP_011536382.1:n.5588+11T>A
XM_011538081.1:c.5585+11T>A	XP_011536383.1:n.5585+11T>A
XM_011538082.1:c.5558+11T>A	XP_011536384.1:n.5558+11T>A
XM_011538080.2:c.5588+11T>A	XP_011536382.1:n.5588+11T>A
XM_011538081.2:c.5585+11T>A	XP_011536383.1:n.5585+11T>A
XM_011538082.2:c.5558+11T>A	XP_011536384.1:n.5558+11T>A
XM_017019090.1:c.5585+11T>A	XP_016874579.1:n.5585+11T>A
NM_015335.5:c.5588+11T>A MANE Select	NP_056150.1:n.5588+11T>A