Canonical Allele Identifier: CA482137323

Gene: MED13L

Linked Data

• ClinVar Variation Id: 782196
• ClinVar RCV Id: RCV002066381
• dbSNP Id: rs200960898
• gnomAD v3: 12-115991456-C-T
• gnomAD v4: 12-115991456-C-T
• MyVariant Identifiers: chr12:g.116429261C>T (hg19) ; chr12:g.115991456C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115991456C>T , CM000674.2:g.115991456C>T	GRCh38
NC_000012.11:g.116429261C>T , CM000674.1:g.116429261C>T	GRCh37
NC_000012.10:g.114913644C>T	NCBI36
NG_023366.1:g.290731G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.3498G>A MANE Select	ENSP00000281928.3:p.Ala1166=
ENST00000549786.2:c.2926G>A
ENST00000648379.1:n.1866G>A
ENST00000648737.1:n.3262G>A
ENST00000648825.1:n.238G>A
ENST00000648916.1:n.1509G>A
ENST00000649607.1:c.1682G>A
ENST00000650226.1:c.3498G>A	ENSP00000496981.1:p.Ala1166=
ENST00000281928.7:c.3498G>A	ENSP00000281928.3:p.Ala1166=
NM_015335.4:c.3498G>A	NP_056150.1:p.Ala1166=
XM_011538080.1:c.3498G>A	XP_011536382.1:p.Ala1166=
XM_011538081.1:c.3495G>A	XP_011536383.1:p.Ala1165=
XM_011538082.1:c.3468G>A	XP_011536384.1:p.Ala1156=
XM_011538080.2:c.3498G>A	XP_011536382.1:p.Ala1166=
XM_011538081.2:c.3495G>A	XP_011536383.1:p.Ala1165=
XM_011538082.2:c.3468G>A	XP_011536384.1:p.Ala1156=
XM_017019090.1:c.3495G>A	XP_016874579.1:p.Ala1165=
NM_015335.5:c.3498G>A MANE Select	NP_056150.1:p.Ala1166=