Canonical Allele Identifier: CA6810551

Gene: MED13L

Linked Data

• dbSNP Id: rs751789849
• ExAC: 12:116413180 C / T
• gnomAD v2: 12-116413180-C-T
• gnomAD v4: 12-115975375-C-T
• MyVariant Identifiers: chr12:g.116413180C>T (hg19) ; chr12:g.115975375C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115975375C>T , CM000674.2:g.115975375C>T	GRCh38
NC_000012.11:g.116413180C>T , CM000674.1:g.116413180C>T	GRCh37
NC_000012.10:g.114897563C>T	NCBI36
NG_023366.1:g.306812G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5589-62G>A MANE Select	ENSP00000281928.3:n.5589-62G>A
ENST00000548694.2:n.517G>A
ENST00000648379.1:n.3957-62G>A
ENST00000648737.1:n.5353-62G>A
ENST00000648825.1:n.3774-62G>A
ENST00000648916.1:n.3600-62G>A
ENST00000649607.1:c.3773-62G>A
ENST00000649775.1:c.2078-62G>A
ENST00000650226.1:c.5589-26G>A	ENSP00000496981.1:n.5589-26G>A
ENST00000281928.7:c.5589-62G>A	ENSP00000281928.3:n.5589-62G>A
ENST00000548694.1:n.517G>A
ENST00000552447.1:c.166-26G>A
NM_015335.4:c.5589-62G>A	NP_056150.1:n.5589-62G>A
XM_011538080.1:c.5589-26G>A	XP_011536382.1:n.5589-26G>A
XM_011538081.1:c.5586-26G>A	XP_011536383.1:n.5586-26G>A
XM_011538082.1:c.5559-26G>A	XP_011536384.1:n.5559-26G>A
XM_011538080.2:c.5589-26G>A	XP_011536382.1:n.5589-26G>A
XM_011538081.2:c.5586-26G>A	XP_011536383.1:n.5586-26G>A
XM_011538082.2:c.5559-26G>A	XP_011536384.1:n.5559-26G>A
XM_017019090.1:c.5586-62G>A	XP_016874579.1:n.5586-62G>A
NM_015335.5:c.5589-62G>A MANE Select	NP_056150.1:n.5589-62G>A