Canonical Allele Identifier: CA386878643

Gene: MED13L

Linked Data

• dbSNP Id: rs1330748481
• gnomAD v2: 12-116413098-G-A
• MyVariant Identifiers: chr12:g.116413098G>A (hg19) ; chr12:g.115975293G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115975293G>A , CM000674.2:g.115975293G>A	GRCh38
NC_000012.11:g.116413098G>A , CM000674.1:g.116413098G>A	GRCh37
NC_000012.10:g.114897481G>A	NCBI36
NG_023366.1:g.306894C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000281928.9:c.5609C>T MANE Select	ENSP00000281928.3:p.Ser1870Phe
ENST00000548694.2:n.599C>T
ENST00000648379.1:n.3977C>T
ENST00000648737.1:n.5373C>T
ENST00000648825.1:n.3794C>T
ENST00000648916.1:n.3620C>T
ENST00000649607.1:c.3793C>T
ENST00000649775.1:c.2098C>T
ENST00000650226.1:c.5645C>T	ENSP00000496981.1:p.Ser1882Phe
ENST00000281928.7:c.5609C>T	ENSP00000281928.3:p.Ser1870Phe
ENST00000548694.1:n.599C>T
ENST00000552447.1:c.222C>T
NM_015335.4:c.5609C>T	NP_056150.1:p.Ser1870Phe
XM_011538080.1:c.5645C>T	XP_011536382.1:p.Ser1882Phe
XM_011538081.1:c.5642C>T	XP_011536383.1:p.Ser1881Phe
XM_011538082.1:c.5615C>T	XP_011536384.1:p.Ser1872Phe
XM_011538080.2:c.5645C>T	XP_011536382.1:p.Ser1882Phe
XM_011538081.2:c.5642C>T	XP_011536383.1:p.Ser1881Phe
XM_011538082.2:c.5615C>T	XP_011536384.1:p.Ser1872Phe
XM_017019090.1:c.5606C>T	XP_016874579.1:p.Ser1869Phe
NM_015335.5:c.5609C>T MANE Select	NP_056150.1:p.Ser1870Phe