Canonical Allele Identifier: CA386898167

Gene: MED13L

Linked Data

• ClinVar Variation Id: 2636636
• ClinVar RCV Id: RCV003420957 ; RCV003498004
• dbSNP Id: rs1221238607
• gnomAD v3: 12-116012797-C-T
• gnomAD v4: 12-116012797-C-T
• MyVariant Identifiers: chr12:g.116450602C>T (hg19) ; chr12:g.116012797C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.116012797C>T , CM000674.2:g.116012797C>T	GRCh38
NC_000012.11:g.116450602C>T , CM000674.1:g.116450602C>T	GRCh37
NC_000012.10:g.114934985C>T	NCBI36
NG_023366.1:g.269390G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000281928.9:c.1280G>A MANE Select	ENSP00000281928.3:p.Arg427Lys
ENST00000548743.2:c.1250G>A	ENSP00000448553.2:p.Arg417Lys
ENST00000549786.2:c.708G>A
ENST00000647567.1:c.1187G>A	ENSP00000497136.1:p.Arg396Lys
ENST00000648737.1:n.1044G>A
ENST00000650226.1:c.1280G>A	ENSP00000496981.1:p.Arg427Lys
ENST00000281928.7:c.1280G>A	ENSP00000281928.3:p.Arg427Lys
NM_015335.4:c.1280G>A	NP_056150.1:p.Arg427Lys
XM_011538080.1:c.1280G>A	XP_011536382.1:p.Arg427Lys
XM_011538081.1:c.1280G>A	XP_011536383.1:p.Arg427Lys
XM_011538082.1:c.1250G>A	XP_011536384.1:p.Arg417Lys
XM_011538080.2:c.1280G>A	XP_011536382.1:p.Arg427Lys
XM_011538081.2:c.1280G>A	XP_011536383.1:p.Arg427Lys
XM_011538082.2:c.1250G>A	XP_011536384.1:p.Arg417Lys
XM_017019090.1:c.1280G>A	XP_016874579.1:p.Arg427Lys
NM_015335.5:c.1280G>A MANE Select	NP_056150.1:p.Arg427Lys