Canonical Allele Identifier: CA684017851

Gene: MED13L

Linked Data

• dbSNP Id: rs1344896681
• gnomAD v3: 12-115982212-T-C
• gnomAD v4: 12-115982212-T-C
• MyVariant Identifiers: chr12:g.116420017T>C (hg19) ; chr12:g.115982212T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115982212T>C , CM000674.2:g.115982212T>C	GRCh38
NC_000012.11:g.116420017T>C , CM000674.1:g.116420017T>C	GRCh37
NC_000012.10:g.114904400T>C	NCBI36
NG_023366.1:g.299975A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5175+172A>G MANE Select	ENSP00000281928.3:n.5175+172A>G
ENST00000549786.2:c.4775A>G
ENST00000648379.1:n.3543+172A>G
ENST00000648737.1:n.4939+172A>G
ENST00000648825.1:n.2087A>G
ENST00000648916.1:n.3186+172A>G
ENST00000649146.1:n.2590A>G
ENST00000649607.1:c.3359+172A>G
ENST00000649775.1:c.1664+172A>G
ENST00000650226.1:c.5175+172A>G	ENSP00000496981.1:n.5175+172A>G
ENST00000281928.7:c.5175+172A>G	ENSP00000281928.3:n.5175+172A>G
ENST00000549786.1:c.711A>G
ENST00000552340.1:c.207+172A>G	ENSP00000449876.1:n.207+172A>G
NM_015335.4:c.5175+172A>G	NP_056150.1:n.5175+172A>G
XM_011538080.1:c.5175+172A>G	XP_011536382.1:n.5175+172A>G
XM_011538081.1:c.5172+172A>G	XP_011536383.1:n.5172+172A>G
XM_011538082.1:c.5145+172A>G	XP_011536384.1:n.5145+172A>G
XM_011538080.2:c.5175+172A>G	XP_011536382.1:n.5175+172A>G
XM_011538081.2:c.5172+172A>G	XP_011536383.1:n.5172+172A>G
XM_011538082.2:c.5145+172A>G	XP_011536384.1:n.5145+172A>G
XM_017019090.1:c.5172+172A>G	XP_016874579.1:n.5172+172A>G
NM_015335.5:c.5175+172A>G MANE Select	NP_056150.1:n.5175+172A>G