Canonical Allele Identifier: CA6810976

Gene: MED13L

Linked Data

• ClinVar Variation Id: 623819
• ClinVar RCV Id: RCV000761841 ; RCV002533886
• dbSNP Id: rs200960898
• ExAC: 12:116429261 C / A
• gnomAD v2: 12-116429261-C-A
• gnomAD v3: 12-115991456-C-A
• gnomAD v4: 12-115991456-C-A
• MyVariant Identifiers: chr12:g.116429261C>A (hg19) ; chr12:g.115991456C>A (hg38)

Genomic Alleles

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

Transcript Alleles

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