Canonical Allele Identifier: CA244133165

Gene: MED13L

Linked Data

• ClinVar Variation Id: 2913448
• ClinVar RCV Id: RCV003603930
• dbSNP Id: rs188574299
• gnomAD v2: 12-116408591-T-G
• gnomAD v4: 12-115970786-T-G
• MyVariant Identifiers: chr12:g.116408591T>G (hg19) ; chr12:g.115970786T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115970786T>G , CM000674.2:g.115970786T>G	GRCh38
NC_000012.11:g.116408591T>G , CM000674.1:g.116408591T>G	GRCh37
NC_000012.10:g.114892974T>G	NCBI36
NG_023366.1:g.311401A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5891-16A>C MANE Select	ENSP00000281928.3:n.5891-16A>C
ENST00000548694.2:n.881-16A>C
ENST00000548784.2:n.2105-16A>C
ENST00000648379.1:n.4259-16A>C
ENST00000648737.1:n.5655-16A>C
ENST00000648825.1:n.4076-16A>C
ENST00000648916.1:n.3902-16A>C
ENST00000649607.1:c.4075-16A>C
ENST00000649775.1:c.2380-16A>C
ENST00000650226.1:c.5927-16A>C	ENSP00000496981.1:n.5927-16A>C
ENST00000281928.7:c.5891-16A>C	ENSP00000281928.3:n.5891-16A>C
ENST00000548784.1:n.389-16A>C
ENST00000552447.1:c.504-16A>C
NM_015335.4:c.5891-16A>C	NP_056150.1:n.5891-16A>C
XM_011538080.1:c.5927-16A>C	XP_011536382.1:n.5927-16A>C
XM_011538081.1:c.5924-16A>C	XP_011536383.1:n.5924-16A>C
XM_011538082.1:c.5897-16A>C	XP_011536384.1:n.5897-16A>C
XM_011538080.2:c.5927-16A>C	XP_011536382.1:n.5927-16A>C
XM_011538081.2:c.5924-16A>C	XP_011536383.1:n.5924-16A>C
XM_011538082.2:c.5897-16A>C	XP_011536384.1:n.5897-16A>C
XM_017019090.1:c.5888-16A>C	XP_016874579.1:n.5888-16A>C
NM_015335.5:c.5891-16A>C MANE Select	NP_056150.1:n.5891-16A>C