Canonical Allele Identifier: CA952187420

Gene: MED13L

Linked Data

• dbSNP Id: rs1877427560
• gnomAD v3: 12-115982909-A-G
• gnomAD v4: 12-115982909-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115982909A>G , CM000674.2:g.115982909A>G	GRCh38
NC_000012.11:g.116420714A>G , CM000674.1:g.116420714A>G	GRCh37
NC_000012.10:g.114905097A>G	NCBI36
NG_023366.1:g.299278T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.4955+208T>C MANE Select	ENSP00000281928.3:n.4955+208T>C
ENST00000549786.2:c.4383+208T>C
ENST00000648379.1:n.3323+208T>C
ENST00000648737.1:n.4719+208T>C
ENST00000648825.1:n.1695+208T>C
ENST00000648916.1:n.2966+208T>C
ENST00000649146.1:n.1893T>C
ENST00000649607.1:c.3139+208T>C
ENST00000649775.1:c.1452+208T>C
ENST00000650226.1:c.4955+208T>C	ENSP00000496981.1:n.4955+208T>C
ENST00000281928.7:c.4955+208T>C	ENSP00000281928.3:n.4955+208T>C
ENST00000549786.1:c.319+208T>C
NM_015335.4:c.4955+208T>C	NP_056150.1:n.4955+208T>C
XM_011538080.1:c.4955+208T>C	XP_011536382.1:n.4955+208T>C
XM_011538081.1:c.4952+208T>C	XP_011536383.1:n.4952+208T>C
XM_011538082.1:c.4925+208T>C	XP_011536384.1:n.4925+208T>C
XM_011538080.2:c.4955+208T>C	XP_011536382.1:n.4955+208T>C
XM_011538081.2:c.4952+208T>C	XP_011536383.1:n.4952+208T>C
XM_011538082.2:c.4925+208T>C	XP_011536384.1:n.4925+208T>C
XM_017019090.1:c.4952+208T>C	XP_016874579.1:n.4952+208T>C
NM_015335.5:c.4955+208T>C MANE Select	NP_056150.1:n.4955+208T>C