Canonical Allele Identifier: CA2065410855

Gene: MED13L

Linked Data

• dbSNP Id: rs1876510768
• gnomAD v4: 12-115970548-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115970548T>C , CM000674.2:g.115970548T>C	GRCh38
NC_000012.11:g.116408353T>C , CM000674.1:g.116408353T>C	GRCh37
NC_000012.10:g.114892736T>C	NCBI36
NG_023366.1:g.311639A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.6067+46A>G MANE Select	ENSP00000281928.3:n.6067+46A>G
ENST00000548784.2:n.2281+46A>G
ENST00000648379.1:n.4435+46A>G
ENST00000648737.1:n.5831+46A>G
ENST00000648825.1:n.4252+46A>G
ENST00000648916.1:n.4078+46A>G
ENST00000649607.1:c.4251+46A>G
ENST00000649775.1:c.2556+46A>G
ENST00000650226.1:c.6103+46A>G	ENSP00000496981.1:n.6103+46A>G
ENST00000281928.7:c.6067+46A>G	ENSP00000281928.3:n.6067+46A>G
NM_015335.4:c.6067+46A>G	NP_056150.1:n.6067+46A>G
XM_011538080.1:c.6103+46A>G	XP_011536382.1:n.6103+46A>G
XM_011538081.1:c.6100+46A>G	XP_011536383.1:n.6100+46A>G
XM_011538082.1:c.6073+46A>G	XP_011536384.1:n.6073+46A>G
XM_011538080.2:c.6103+46A>G	XP_011536382.1:n.6103+46A>G
XM_011538081.2:c.6100+46A>G	XP_011536383.1:n.6100+46A>G
XM_011538082.2:c.6073+46A>G	XP_011536384.1:n.6073+46A>G
XM_017019090.1:c.6064+46A>G	XP_016874579.1:n.6064+46A>G
NM_015335.5:c.6067+46A>G MANE Select	NP_056150.1:n.6067+46A>G