Canonical Allele Identifier: CA244140984

Gene: MED13L

Linked Data

• dbSNP Id: rs945525869
• gnomAD v4: 12-115982157-A-G
• MyVariant Identifiers: chr12:g.115982157A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115982157A>G , CM000674.2:g.115982157A>G	GRCh38
NC_000012.11:g.116419962A>G , CM000674.1:g.116419962A>G	GRCh37
NC_000012.10:g.114904345A>G	NCBI36
NG_023366.1:g.300030T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5175+227T>C MANE Select	ENSP00000281928.3:n.5175+227T>C
ENST00000549786.2:c.4830T>C
ENST00000648379.1:n.3543+227T>C
ENST00000648737.1:n.4939+227T>C
ENST00000648825.1:n.2142T>C
ENST00000648916.1:n.3186+227T>C
ENST00000649146.1:n.2645T>C
ENST00000649607.1:c.3359+227T>C
ENST00000649775.1:c.1664+227T>C
ENST00000650226.1:c.5175+227T>C	ENSP00000496981.1:n.5175+227T>C
ENST00000281928.7:c.5175+227T>C	ENSP00000281928.3:n.5175+227T>C
ENST00000549786.1:c.766T>C
ENST00000552340.1:c.207+227T>C	ENSP00000449876.1:n.207+227T>C
NM_015335.4:c.5175+227T>C	NP_056150.1:n.5175+227T>C
XM_011538080.1:c.5175+227T>C	XP_011536382.1:n.5175+227T>C
XM_011538081.1:c.5172+227T>C	XP_011536383.1:n.5172+227T>C
XM_011538082.1:c.5145+227T>C	XP_011536384.1:n.5145+227T>C
XM_011538080.2:c.5175+227T>C	XP_011536382.1:n.5175+227T>C
XM_011538081.2:c.5172+227T>C	XP_011536383.1:n.5172+227T>C
XM_011538082.2:c.5145+227T>C	XP_011536384.1:n.5145+227T>C
XM_017019090.1:c.5172+227T>C	XP_016874579.1:n.5172+227T>C
NM_015335.5:c.5175+227T>C MANE Select	NP_056150.1:n.5175+227T>C