Canonical Allele Identifier: CA386882262

Gene: MED13L

Linked Data

• dbSNP Id: rs1877403427
• gnomAD v4: 12-115982584-T-C
• MyVariant Identifiers: chr12:g.116420389T>C (hg19) ; chr12:g.115982584T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115982584T>C , CM000674.2:g.115982584T>C	GRCh38
NC_000012.11:g.116420389T>C , CM000674.1:g.116420389T>C	GRCh37
NC_000012.10:g.114904772T>C	NCBI36
NG_023366.1:g.299603A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.4975A>G MANE Select	ENSP00000281928.3:p.Ile1659Val
ENST00000549786.2:c.4403A>G
ENST00000648379.1:n.3343A>G
ENST00000648737.1:n.4739A>G
ENST00000648825.1:n.1715A>G
ENST00000648916.1:n.2986A>G
ENST00000649146.1:n.2218A>G
ENST00000649607.1:c.3159A>G
ENST00000649775.1:c.1464A>G
ENST00000650226.1:c.4975A>G	ENSP00000496981.1:p.Ile1659Val
ENST00000281928.7:c.4975A>G	ENSP00000281928.3:p.Ile1659Val
ENST00000549786.1:c.339A>G
ENST00000552340.1:c.7A>G	ENSP00000449876.1:p.Ile3Val
NM_015335.4:c.4975A>G	NP_056150.1:p.Ile1659Val
XM_011538080.1:c.4975A>G	XP_011536382.1:p.Ile1659Val
XM_011538081.1:c.4972A>G	XP_011536383.1:p.Ile1658Val
XM_011538082.1:c.4945A>G	XP_011536384.1:p.Ile1649Val
XM_011538080.2:c.4975A>G	XP_011536382.1:p.Ile1659Val
XM_011538081.2:c.4972A>G	XP_011536383.1:p.Ile1658Val
XM_011538082.2:c.4945A>G	XP_011536384.1:p.Ile1649Val
XM_017019090.1:c.4972A>G	XP_016874579.1:p.Ile1658Val
NM_015335.5:c.4975A>G MANE Select	NP_056150.1:p.Ile1659Val