Canonical Allele Identifier: CA6811827

Gene: MED13L

Linked Data

• ClinVar Variation Id: 533130
• ClinVar RCV Id: RCV000640151
• dbSNP Id: rs199550041
• ExAC: 12:116675517 A / G
• gnomAD v2: 12-116675517-A-G
• gnomAD v3: 12-116237712-A-G
• gnomAD v4: 12-116237712-A-G
• MyVariant Identifiers: chr12:g.116675517A>G (hg19) ; chr12:g.116237712A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.116237712A>G , CM000674.2:g.116237712A>G	GRCh38
NC_000012.11:g.116675517A>G , CM000674.1:g.116675517A>G	GRCh37
NC_000012.10:g.115159900A>G	NCBI36
NG_023366.1:g.44475T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000281928.9:c.73-7T>C MANE Select	ENSP00000281928.3:n.73-7T>C
ENST00000548743.2:c.43-7T>C	ENSP00000448553.2:n.43-7T>C
ENST00000551197.2:c.23-7T>C
ENST00000650226.1:c.73-7T>C	ENSP00000496981.1:n.73-7T>C
ENST00000650375.1:n.235-7T>C
ENST00000281928.7:c.73-7T>C	ENSP00000281928.3:n.73-7T>C
ENST00000548743.1:c.43-7T>C	ENSP00000448553.1:n.43-7T>C
ENST00000551197.1:n.23-7T>C
NM_015335.4:c.73-7T>C	NP_056150.1:n.73-7T>C
XM_011538080.1:c.73-7T>C	XP_011536382.1:n.73-7T>C
XM_011538081.1:c.73-7T>C	XP_011536383.1:n.73-7T>C
XM_011538082.1:c.43-7T>C	XP_011536384.1:n.43-7T>C
XM_011538080.2:c.73-7T>C	XP_011536382.1:n.73-7T>C
XM_011538081.2:c.73-7T>C	XP_011536383.1:n.73-7T>C
XM_011538082.2:c.43-7T>C	XP_011536384.1:n.43-7T>C
XM_017019090.1:c.73-7T>C	XP_016874579.1:n.73-7T>C
NM_015335.5:c.73-7T>C MANE Select	NP_056150.1:n.73-7T>C