Canonical Allele Identifier: CA608055688

Gene: MED13L

Linked Data

• dbSNP Id: rs1376475634
• gnomAD v2: 12-116413300-T-C
• gnomAD v4: 12-115975495-T-C
• MyVariant Identifiers: chr12:g.116413300T>C (hg19) ; chr12:g.115975495T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115975495T>C , CM000674.2:g.115975495T>C	GRCh38
NC_000012.11:g.116413300T>C , CM000674.1:g.116413300T>C	GRCh37
NC_000012.10:g.114897683T>C	NCBI36
NG_023366.1:g.306692A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5588+20A>G MANE Select	ENSP00000281928.3:n.5588+20A>G
ENST00000548694.2:n.397A>G
ENST00000648379.1:n.3956+20A>G
ENST00000648737.1:n.5352+20A>G
ENST00000648825.1:n.3773+20A>G
ENST00000648916.1:n.3599+20A>G
ENST00000649607.1:c.3772+20A>G
ENST00000649775.1:c.2077+20A>G
ENST00000650226.1:c.5588+20A>G	ENSP00000496981.1:n.5588+20A>G
ENST00000281928.7:c.5588+20A>G	ENSP00000281928.3:n.5588+20A>G
ENST00000548694.1:n.397A>G
ENST00000552447.1:c.165+20A>G
NM_015335.4:c.5588+20A>G	NP_056150.1:n.5588+20A>G
XM_011538080.1:c.5588+20A>G	XP_011536382.1:n.5588+20A>G
XM_011538081.1:c.5585+20A>G	XP_011536383.1:n.5585+20A>G
XM_011538082.1:c.5558+20A>G	XP_011536384.1:n.5558+20A>G
XM_011538080.2:c.5588+20A>G	XP_011536382.1:n.5588+20A>G
XM_011538081.2:c.5585+20A>G	XP_011536383.1:n.5585+20A>G
XM_011538082.2:c.5558+20A>G	XP_011536384.1:n.5558+20A>G
XM_017019090.1:c.5585+20A>G	XP_016874579.1:n.5585+20A>G
NM_015335.5:c.5588+20A>G MANE Select	NP_056150.1:n.5588+20A>G