Canonical Allele Identifier: CA2621147793

Gene: MED13L

Linked Data

• dbSNP Id: rs2137403836
• gnomAD v4: 12-116012687-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.116012687A>G , CM000674.2:g.116012687A>G	GRCh38
NC_000012.11:g.116450492A>G , CM000674.1:g.116450492A>G	GRCh37
NC_000012.10:g.114934875A>G	NCBI36
NG_023366.1:g.269500T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.1280+110T>C MANE Select	ENSP00000281928.3:n.1280+110T>C
ENST00000548743.2:c.1250+110T>C	ENSP00000448553.2:n.1250+110T>C
ENST00000549786.2:c.708+110T>C
ENST00000647567.1:c.1187+110T>C	ENSP00000497136.1:n.1187+110T>C
ENST00000648737.1:n.1044+110T>C
ENST00000650226.1:c.1280+110T>C	ENSP00000496981.1:n.1280+110T>C
ENST00000281928.7:c.1280+110T>C	ENSP00000281928.3:n.1280+110T>C
NM_015335.4:c.1280+110T>C	NP_056150.1:n.1280+110T>C
XM_011538080.1:c.1280+110T>C	XP_011536382.1:n.1280+110T>C
XM_011538081.1:c.1280+110T>C	XP_011536383.1:n.1280+110T>C
XM_011538082.1:c.1250+110T>C	XP_011536384.1:n.1250+110T>C
XM_011538080.2:c.1280+110T>C	XP_011536382.1:n.1280+110T>C
XM_011538081.2:c.1280+110T>C	XP_011536383.1:n.1280+110T>C
XM_011538082.2:c.1250+110T>C	XP_011536384.1:n.1250+110T>C
XM_017019090.1:c.1280+110T>C	XP_016874579.1:n.1280+110T>C
NM_015335.5:c.1280+110T>C MANE Select	NP_056150.1:n.1280+110T>C