Canonical Allele Identifier: CA6810554

Gene: MED13L

Linked Data

• dbSNP Id: rs747953269
• ExAC: 12:116413187 G / C
• gnomAD v2: 12-116413187-G-C
• gnomAD v3: 12-115975382-G-C
• gnomAD v4: 12-115975382-G-C
• MyVariant Identifiers: chr12:g.116413187G>C (hg19) ; chr12:g.115975382G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115975382G>C , CM000674.2:g.115975382G>C	GRCh38
NC_000012.11:g.116413187G>C , CM000674.1:g.116413187G>C	GRCh37
NC_000012.10:g.114897570G>C	NCBI36
NG_023366.1:g.306805C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5589-69C>G MANE Select	ENSP00000281928.3:n.5589-69C>G
ENST00000548694.2:n.510C>G
ENST00000648379.1:n.3957-69C>G
ENST00000648737.1:n.5353-69C>G
ENST00000648825.1:n.3774-69C>G
ENST00000648916.1:n.3600-69C>G
ENST00000649607.1:c.3773-69C>G
ENST00000649775.1:c.2078-69C>G
ENST00000650226.1:c.5589-33C>G	ENSP00000496981.1:n.5589-33C>G
ENST00000281928.7:c.5589-69C>G	ENSP00000281928.3:n.5589-69C>G
ENST00000548694.1:n.510C>G
ENST00000552447.1:c.166-33C>G
NM_015335.4:c.5589-69C>G	NP_056150.1:n.5589-69C>G
XM_011538080.1:c.5589-33C>G	XP_011536382.1:n.5589-33C>G
XM_011538081.1:c.5586-33C>G	XP_011536383.1:n.5586-33C>G
XM_011538082.1:c.5559-33C>G	XP_011536384.1:n.5559-33C>G
XM_011538080.2:c.5589-33C>G	XP_011536382.1:n.5589-33C>G
XM_011538081.2:c.5586-33C>G	XP_011536383.1:n.5586-33C>G
XM_011538082.2:c.5559-33C>G	XP_011536384.1:n.5559-33C>G
XM_017019090.1:c.5586-69C>G	XP_016874579.1:n.5586-69C>G
NM_015335.5:c.5589-69C>G MANE Select	NP_056150.1:n.5589-69C>G