Canonical Allele Identifier: CA2065408814

Gene: MED13L

Linked Data

• dbSNP Id: rs1876137742
• gnomAD v4: 12-115966070-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115966070C>T , CM000674.2:g.115966070C>T	GRCh38
NC_000012.11:g.116403875C>T , CM000674.1:g.116403875C>T	GRCh37
NC_000012.10:g.114888258C>T	NCBI36
NG_023366.1:g.316117G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000281928.9:c.6387+12G>A MANE Select	ENSP00000281928.3:n.6387+12G>A
ENST00000548784.2:n.2601+12G>A
ENST00000648379.1:n.4755+12G>A
ENST00000648737.1:n.6151+12G>A
ENST00000648762.1:n.1077+12G>A
ENST00000648825.1:n.4572+12G>A
ENST00000648916.1:n.4398+12G>A
ENST00000649607.1:c.4571+12G>A
ENST00000649775.1:c.2718+12G>A
ENST00000650226.1:c.6423+12G>A	ENSP00000496981.1:n.6423+12G>A
ENST00000281928.7:c.6387+12G>A	ENSP00000281928.3:n.6387+12G>A
NM_015335.4:c.6387+12G>A	NP_056150.1:n.6387+12G>A
XM_011538080.1:c.6423+12G>A	XP_011536382.1:n.6423+12G>A
XM_011538081.1:c.6420+12G>A	XP_011536383.1:n.6420+12G>A
XM_011538082.1:c.6393+12G>A	XP_011536384.1:n.6393+12G>A
XM_011538080.2:c.6423+12G>A	XP_011536382.1:n.6423+12G>A
XM_011538081.2:c.6420+12G>A	XP_011536383.1:n.6420+12G>A
XM_011538082.2:c.6393+12G>A	XP_011536384.1:n.6393+12G>A
XM_017019090.1:c.6384+12G>A	XP_016874579.1:n.6384+12G>A
NM_015335.5:c.6387+12G>A MANE Select	NP_056150.1:n.6387+12G>A