Canonical Allele Identifier: CA6810478

Gene: MED13L

Linked Data

• dbSNP Id: rs767230815
• ExAC: 12:116408602 C / T
• gnomAD v2: 12-116408602-C-T
• gnomAD v3: 12-115970797-C-T
• gnomAD v4: 12-115970797-C-T
• MyVariant Identifiers: chr12:g.116408602C>T (hg19) ; chr12:g.115970797C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115970797C>T , CM000674.2:g.115970797C>T	GRCh38
NC_000012.11:g.116408602C>T , CM000674.1:g.116408602C>T	GRCh37
NC_000012.10:g.114892985C>T	NCBI36
NG_023366.1:g.311390G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5891-27G>A MANE Select	ENSP00000281928.3:n.5891-27G>A
ENST00000548694.2:n.881-27G>A
ENST00000548784.2:n.2105-27G>A
ENST00000648379.1:n.4259-27G>A
ENST00000648737.1:n.5655-27G>A
ENST00000648825.1:n.4076-27G>A
ENST00000648916.1:n.3902-27G>A
ENST00000649607.1:c.4075-27G>A
ENST00000649775.1:c.2380-27G>A
ENST00000650226.1:c.5927-27G>A	ENSP00000496981.1:n.5927-27G>A
ENST00000281928.7:c.5891-27G>A	ENSP00000281928.3:n.5891-27G>A
ENST00000548784.1:n.389-27G>A
ENST00000552447.1:c.504-27G>A
NM_015335.4:c.5891-27G>A	NP_056150.1:n.5891-27G>A
XM_011538080.1:c.5927-27G>A	XP_011536382.1:n.5927-27G>A
XM_011538081.1:c.5924-27G>A	XP_011536383.1:n.5924-27G>A
XM_011538082.1:c.5897-27G>A	XP_011536384.1:n.5897-27G>A
XM_011538080.2:c.5927-27G>A	XP_011536382.1:n.5927-27G>A
XM_011538081.2:c.5924-27G>A	XP_011536383.1:n.5924-27G>A
XM_011538082.2:c.5897-27G>A	XP_011536384.1:n.5897-27G>A
XM_017019090.1:c.5888-27G>A	XP_016874579.1:n.5888-27G>A
NM_015335.5:c.5891-27G>A MANE Select	NP_056150.1:n.5891-27G>A