Canonical Allele Identifier: CA6810818

Gene: MED13L

Linked Data

• dbSNP Id: rs779573033
• ExAC: 12:116422192 A / G
• gnomAD v2: 12-116422192-A-G
• gnomAD v4: 12-115984387-A-G
• MyVariant Identifiers: chr12:g.116422192A>G (hg19) ; chr12:g.115984387A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115984387A>G , CM000674.2:g.115984387A>G	GRCh38
NC_000012.11:g.116422192A>G , CM000674.1:g.116422192A>G	GRCh37
NC_000012.10:g.114906575A>G	NCBI36
NG_023366.1:g.297800T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.4339-15T>C MANE Select	ENSP00000281928.3:n.4339-15T>C
ENST00000549786.2:c.3767-15T>C
ENST00000648379.1:n.2707-15T>C
ENST00000648737.1:n.4103-15T>C
ENST00000648825.1:n.1079-15T>C
ENST00000648916.1:n.2350-15T>C
ENST00000649146.1:n.1054T>C
ENST00000649607.1:c.2523-15T>C
ENST00000649775.1:c.836-15T>C
ENST00000650091.1:n.2315-15T>C
ENST00000650226.1:c.4339-15T>C	ENSP00000496981.1:n.4339-15T>C
ENST00000281928.7:c.4339-15T>C	ENSP00000281928.3:n.4339-15T>C
NM_015335.4:c.4339-15T>C	NP_056150.1:n.4339-15T>C
XM_011538080.1:c.4339-15T>C	XP_011536382.1:n.4339-15T>C
XM_011538081.1:c.4336-15T>C	XP_011536383.1:n.4336-15T>C
XM_011538082.1:c.4309-15T>C	XP_011536384.1:n.4309-15T>C
XM_011538080.2:c.4339-15T>C	XP_011536382.1:n.4339-15T>C
XM_011538081.2:c.4336-15T>C	XP_011536383.1:n.4336-15T>C
XM_011538082.2:c.4309-15T>C	XP_011536384.1:n.4309-15T>C
XM_017019090.1:c.4336-15T>C	XP_016874579.1:n.4336-15T>C
NM_015335.5:c.4339-15T>C MANE Select	NP_056150.1:n.4339-15T>C