Canonical Allele Identifier: CA607650518

Gene: MED13L

Linked Data

• dbSNP Id: rs1456418028
• gnomAD v2: 12-116413146-A-G
• gnomAD v4: 12-115975341-A-G
• MyVariant Identifiers: chr12:g.116413146A>G (hg19) ; chr12:g.115975341A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115975341A>G , CM000674.2:g.115975341A>G	GRCh38
NC_000012.11:g.116413146A>G , CM000674.1:g.116413146A>G	GRCh37
NC_000012.10:g.114897529A>G	NCBI36
NG_023366.1:g.306846T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5589-28T>C MANE Select	ENSP00000281928.3:n.5589-28T>C
ENST00000548694.2:n.551T>C
ENST00000648379.1:n.3957-28T>C
ENST00000648737.1:n.5353-28T>C
ENST00000648825.1:n.3774-28T>C
ENST00000648916.1:n.3600-28T>C
ENST00000649607.1:c.3773-28T>C
ENST00000649775.1:c.2078-28T>C
ENST00000650226.1:c.5597T>C	ENSP00000496981.1:p.Phe1866Ser
ENST00000281928.7:c.5589-28T>C	ENSP00000281928.3:n.5589-28T>C
ENST00000548694.1:n.551T>C
ENST00000552447.1:c.174T>C
NM_015335.4:c.5589-28T>C	NP_056150.1:n.5589-28T>C
XM_011538080.1:c.5597T>C	XP_011536382.1:p.Phe1866Ser
XM_011538081.1:c.5594T>C	XP_011536383.1:p.Phe1865Ser
XM_011538082.1:c.5567T>C	XP_011536384.1:p.Phe1856Ser
XM_011538080.2:c.5597T>C	XP_011536382.1:p.Phe1866Ser
XM_011538081.2:c.5594T>C	XP_011536383.1:p.Phe1865Ser
XM_011538082.2:c.5567T>C	XP_011536384.1:p.Phe1856Ser
XM_017019090.1:c.5586-28T>C	XP_016874579.1:n.5586-28T>C
NM_015335.5:c.5589-28T>C MANE Select	NP_056150.1:n.5589-28T>C