Canonical Allele Identifier: CA481951109

Gene: MED13L

Linked Data

• dbSNP Id: rs1879496065
• gnomAD v4: 12-116012799-G-A
• MyVariant Identifiers: chr12:g.116450604G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.116012799G>A , CM000674.2:g.116012799G>A	GRCh38
NC_000012.11:g.116450604G>A , CM000674.1:g.116450604G>A	GRCh37
NC_000012.10:g.114934987G>A	NCBI36
NG_023366.1:g.269388C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000281928.9:c.1278C>T MANE Select	ENSP00000281928.3:p.Ser426=
ENST00000548743.2:c.1248C>T	ENSP00000448553.2:p.Ser416=
ENST00000549786.2:c.706C>T
ENST00000647567.1:c.1185C>T	ENSP00000497136.1:p.Ser395=
ENST00000648737.1:n.1042C>T
ENST00000650226.1:c.1278C>T	ENSP00000496981.1:p.Ser426=
ENST00000281928.7:c.1278C>T	ENSP00000281928.3:p.Ser426=
NM_015335.4:c.1278C>T	NP_056150.1:p.Ser426=
XM_011538080.1:c.1278C>T	XP_011536382.1:p.Ser426=
XM_011538081.1:c.1278C>T	XP_011536383.1:p.Ser426=
XM_011538082.1:c.1248C>T	XP_011536384.1:p.Ser416=
XM_011538080.2:c.1278C>T	XP_011536382.1:p.Ser426=
XM_011538081.2:c.1278C>T	XP_011536383.1:p.Ser426=
XM_011538082.2:c.1248C>T	XP_011536384.1:p.Ser416=
XM_017019090.1:c.1278C>T	XP_016874579.1:p.Ser426=
NM_015335.5:c.1278C>T MANE Select	NP_056150.1:p.Ser426=