Canonical Allele Identifier: CA386927540

Gene: MED13L

Linked Data

• dbSNP Id: rs1403666758
• gnomAD v2: 12-116675425-T-A
• gnomAD v4: 12-116237620-T-A
• MyVariant Identifiers: chr12:g.116675425T>A (hg19) ; chr12:g.116237620T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.116237620T>A , CM000674.2:g.116237620T>A	GRCh38
NC_000012.11:g.116675425T>A , CM000674.1:g.116675425T>A	GRCh37
NC_000012.10:g.115159808T>A	NCBI36
NG_023366.1:g.44567A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.158A>T MANE Select	ENSP00000281928.3:p.Asp53Val
ENST00000548743.2:c.128A>T	ENSP00000448553.2:p.Asp43Val
ENST00000551197.2:c.108A>T
ENST00000647567.1:c.68A>T	ENSP00000497136.1:p.Asp23Val
ENST00000650226.1:c.158A>T	ENSP00000496981.1:p.Asp53Val
ENST00000650375.1:n.320A>T
ENST00000281928.7:c.158A>T	ENSP00000281928.3:p.Asp53Val
ENST00000548743.1:c.128A>T	ENSP00000448553.1:p.Asp43Val
ENST00000551197.1:n.108A>T
NM_015335.4:c.158A>T	NP_056150.1:p.Asp53Val
XM_011538080.1:c.158A>T	XP_011536382.1:p.Asp53Val
XM_011538081.1:c.158A>T	XP_011536383.1:p.Asp53Val
XM_011538082.1:c.128A>T	XP_011536384.1:p.Asp43Val
XM_011538080.2:c.158A>T	XP_011536382.1:p.Asp53Val
XM_011538081.2:c.158A>T	XP_011536383.1:p.Asp53Val
XM_011538082.2:c.128A>T	XP_011536384.1:p.Asp43Val
XM_017019090.1:c.158A>T	XP_016874579.1:p.Asp53Val
NM_015335.5:c.158A>T MANE Select	NP_056150.1:p.Asp53Val