Canonical Allele Identifier: CA607650555

Gene: MED13L

Linked Data

• dbSNP Id: rs1178165091
• gnomAD v2: 12-116413200-A-C
• MyVariant Identifiers: chr12:g.116413200A>C (hg19) ; chr12:g.115975395A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115975395A>C , CM000674.2:g.115975395A>C	GRCh38
NC_000012.11:g.116413200A>C , CM000674.1:g.116413200A>C	GRCh37
NC_000012.10:g.114897583A>C	NCBI36
NG_023366.1:g.306792T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5589-82T>G MANE Select	ENSP00000281928.3:n.5589-82T>G
ENST00000548694.2:n.497T>G
ENST00000648379.1:n.3957-82T>G
ENST00000648737.1:n.5353-82T>G
ENST00000648825.1:n.3774-82T>G
ENST00000648916.1:n.3600-82T>G
ENST00000649607.1:c.3773-82T>G
ENST00000649775.1:c.2078-82T>G
ENST00000650226.1:c.5589-46T>G	ENSP00000496981.1:n.5589-46T>G
ENST00000281928.7:c.5589-82T>G	ENSP00000281928.3:n.5589-82T>G
ENST00000548694.1:n.497T>G
ENST00000552447.1:c.166-46T>G
NM_015335.4:c.5589-82T>G	NP_056150.1:n.5589-82T>G
XM_011538080.1:c.5589-46T>G	XP_011536382.1:n.5589-46T>G
XM_011538081.1:c.5586-46T>G	XP_011536383.1:n.5586-46T>G
XM_011538082.1:c.5559-46T>G	XP_011536384.1:n.5559-46T>G
XM_011538080.2:c.5589-46T>G	XP_011536382.1:n.5589-46T>G
XM_011538081.2:c.5586-46T>G	XP_011536383.1:n.5586-46T>G
XM_011538082.2:c.5559-46T>G	XP_011536384.1:n.5559-46T>G
XM_017019090.1:c.5586-82T>G	XP_016874579.1:n.5586-82T>G
NM_015335.5:c.5589-82T>G MANE Select	NP_056150.1:n.5589-82T>G