Canonical Allele Identifier: CA952187424

Gene: MED13L

Linked Data

• dbSNP Id: rs1877428797
• gnomAD v3: 12-115982924-T-C
• gnomAD v4: 12-115982924-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115982924T>C , CM000674.2:g.115982924T>C	GRCh38
NC_000012.11:g.116420729T>C , CM000674.1:g.116420729T>C	GRCh37
NC_000012.10:g.114905112T>C	NCBI36
NG_023366.1:g.299263A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.4955+193A>G MANE Select	ENSP00000281928.3:n.4955+193A>G
ENST00000549786.2:c.4383+193A>G
ENST00000648379.1:n.3323+193A>G
ENST00000648737.1:n.4719+193A>G
ENST00000648825.1:n.1695+193A>G
ENST00000648916.1:n.2966+193A>G
ENST00000649146.1:n.1878A>G
ENST00000649607.1:c.3139+193A>G
ENST00000649775.1:c.1452+193A>G
ENST00000650226.1:c.4955+193A>G	ENSP00000496981.1:n.4955+193A>G
ENST00000281928.7:c.4955+193A>G	ENSP00000281928.3:n.4955+193A>G
ENST00000549786.1:c.319+193A>G
NM_015335.4:c.4955+193A>G	NP_056150.1:n.4955+193A>G
XM_011538080.1:c.4955+193A>G	XP_011536382.1:n.4955+193A>G
XM_011538081.1:c.4952+193A>G	XP_011536383.1:n.4952+193A>G
XM_011538082.1:c.4925+193A>G	XP_011536384.1:n.4925+193A>G
XM_011538080.2:c.4955+193A>G	XP_011536382.1:n.4955+193A>G
XM_011538081.2:c.4952+193A>G	XP_011536383.1:n.4952+193A>G
XM_011538082.2:c.4925+193A>G	XP_011536384.1:n.4925+193A>G
XM_017019090.1:c.4952+193A>G	XP_016874579.1:n.4952+193A>G
NM_015335.5:c.4955+193A>G MANE Select	NP_056150.1:n.4955+193A>G