Canonical Allele Identifier: CA684019892

Gene: MED13L

Linked Data

• dbSNP Id: rs1174162071
• gnomAD v4: 12-115984470-C-T
• MyVariant Identifiers: chr12:g.116422275C>T (hg19) ; chr12:g.115984470C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115984470C>T , CM000674.2:g.115984470C>T	GRCh38
NC_000012.11:g.116422275C>T , CM000674.1:g.116422275C>T	GRCh37
NC_000012.10:g.114906658C>T	NCBI36
NG_023366.1:g.297717G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.4339-98G>A MANE Select	ENSP00000281928.3:n.4339-98G>A
ENST00000549786.2:c.3767-98G>A
ENST00000648379.1:n.2707-98G>A
ENST00000648737.1:n.4103-98G>A
ENST00000648825.1:n.1079-98G>A
ENST00000648916.1:n.2350-98G>A
ENST00000649146.1:n.971G>A
ENST00000649607.1:c.2523-98G>A
ENST00000649775.1:c.836-98G>A
ENST00000650091.1:n.2315-98G>A
ENST00000650226.1:c.4339-98G>A	ENSP00000496981.1:n.4339-98G>A
ENST00000281928.7:c.4339-98G>A	ENSP00000281928.3:n.4339-98G>A
NM_015335.4:c.4339-98G>A	NP_056150.1:n.4339-98G>A
XM_011538080.1:c.4339-98G>A	XP_011536382.1:n.4339-98G>A
XM_011538081.1:c.4336-98G>A	XP_011536383.1:n.4336-98G>A
XM_011538082.1:c.4309-98G>A	XP_011536384.1:n.4309-98G>A
XM_011538080.2:c.4339-98G>A	XP_011536382.1:n.4339-98G>A
XM_011538081.2:c.4336-98G>A	XP_011536383.1:n.4336-98G>A
XM_011538082.2:c.4309-98G>A	XP_011536384.1:n.4309-98G>A
XM_017019090.1:c.4336-98G>A	XP_016874579.1:n.4336-98G>A
NM_015335.5:c.4339-98G>A MANE Select	NP_056150.1:n.4339-98G>A