Canonical Allele Identifier: CA6810823

Gene: MED13L

Linked Data

• dbSNP Id: rs369969104
• ExAC: 12:116422205 A / G
• gnomAD v2: 12-116422205-A-G
• gnomAD v3: 12-115984400-A-G
• gnomAD v4: 12-115984400-A-G
• MyVariant Identifiers: chr12:g.116422205A>G (hg19) ; chr12:g.115984400A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115984400A>G , CM000674.2:g.115984400A>G	GRCh38
NC_000012.11:g.116422205A>G , CM000674.1:g.116422205A>G	GRCh37
NC_000012.10:g.114906588A>G	NCBI36
NG_023366.1:g.297787T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.4339-28T>C MANE Select	ENSP00000281928.3:n.4339-28T>C
ENST00000549786.2:c.3767-28T>C
ENST00000648379.1:n.2707-28T>C
ENST00000648737.1:n.4103-28T>C
ENST00000648825.1:n.1079-28T>C
ENST00000648916.1:n.2350-28T>C
ENST00000649146.1:n.1041T>C
ENST00000649607.1:c.2523-28T>C
ENST00000649775.1:c.836-28T>C
ENST00000650091.1:n.2315-28T>C
ENST00000650226.1:c.4339-28T>C	ENSP00000496981.1:n.4339-28T>C
ENST00000281928.7:c.4339-28T>C	ENSP00000281928.3:n.4339-28T>C
NM_015335.4:c.4339-28T>C	NP_056150.1:n.4339-28T>C
XM_011538080.1:c.4339-28T>C	XP_011536382.1:n.4339-28T>C
XM_011538081.1:c.4336-28T>C	XP_011536383.1:n.4336-28T>C
XM_011538082.1:c.4309-28T>C	XP_011536384.1:n.4309-28T>C
XM_011538080.2:c.4339-28T>C	XP_011536382.1:n.4339-28T>C
XM_011538081.2:c.4336-28T>C	XP_011536383.1:n.4336-28T>C
XM_011538082.2:c.4309-28T>C	XP_011536384.1:n.4309-28T>C
XM_017019090.1:c.4336-28T>C	XP_016874579.1:n.4336-28T>C
NM_015335.5:c.4339-28T>C MANE Select	NP_056150.1:n.4339-28T>C