Canonical Allele Identifier: CA684011430

Gene: MED13L

Linked Data

• dbSNP Id: rs1257080812
• gnomAD v3: 12-115970819-A-G
• gnomAD v4: 12-115970819-A-G
• MyVariant Identifiers: chr12:g.116408624A>G (hg19) ; chr12:g.115970819A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115970819A>G , CM000674.2:g.115970819A>G	GRCh38
NC_000012.11:g.116408624A>G , CM000674.1:g.116408624A>G	GRCh37
NC_000012.10:g.114893007A>G	NCBI36
NG_023366.1:g.311368T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5891-49T>C MANE Select	ENSP00000281928.3:n.5891-49T>C
ENST00000548694.2:n.881-49T>C
ENST00000548784.2:n.2105-49T>C
ENST00000648379.1:n.4259-49T>C
ENST00000648737.1:n.5655-49T>C
ENST00000648825.1:n.4076-49T>C
ENST00000648916.1:n.3902-49T>C
ENST00000649607.1:c.4075-49T>C
ENST00000649775.1:c.2380-49T>C
ENST00000650226.1:c.5927-49T>C	ENSP00000496981.1:n.5927-49T>C
ENST00000281928.7:c.5891-49T>C	ENSP00000281928.3:n.5891-49T>C
ENST00000548784.1:n.389-49T>C
ENST00000552447.1:c.504-49T>C
NM_015335.4:c.5891-49T>C	NP_056150.1:n.5891-49T>C
XM_011538080.1:c.5927-49T>C	XP_011536382.1:n.5927-49T>C
XM_011538081.1:c.5924-49T>C	XP_011536383.1:n.5924-49T>C
XM_011538082.1:c.5897-49T>C	XP_011536384.1:n.5897-49T>C
XM_011538080.2:c.5927-49T>C	XP_011536382.1:n.5927-49T>C
XM_011538081.2:c.5924-49T>C	XP_011536383.1:n.5924-49T>C
XM_011538082.2:c.5897-49T>C	XP_011536384.1:n.5897-49T>C
XM_017019090.1:c.5888-49T>C	XP_016874579.1:n.5888-49T>C
NM_015335.5:c.5891-49T>C MANE Select	NP_056150.1:n.5891-49T>C