Canonical Allele Identifier: CA6811834

Gene: MED13L

Linked Data

• dbSNP Id: rs201560896
• ExAC: 12:116675553 T / C
• gnomAD v2: 12-116675553-T-C
• gnomAD v3: 12-116237748-T-C
• gnomAD v4: 12-116237748-T-C
• MyVariant Identifiers: chr12:g.116675553T>C (hg19) ; chr12:g.116675553_116675557delinsCACAG (hg19) ; chr12:g.116237748T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.116237748T>C , CM000674.2:g.116237748T>C	GRCh38
NC_000012.11:g.116675553T>C , CM000674.1:g.116675553T>C	GRCh37
NC_000012.10:g.115159936T>C	NCBI36
NG_023366.1:g.44439A>G

Transcript Alleles

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