Canonical Allele Identifier: CA6811033

Gene: MED13L

Linked Data

• ClinVar Variation Id: 1964869
• ClinVar RCV Id: RCV002726379
• dbSNP Id: rs781353182
• ExAC: 12:116429695 C / T
• gnomAD v2: 12-116429695-C-T
• gnomAD v3: 12-115991890-C-T
• gnomAD v4: 12-115991890-C-T
• MyVariant Identifiers: chr12:g.116429695C>T (hg19) ; chr12:g.115991890C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115991890C>T , CM000674.2:g.115991890C>T	GRCh38
NC_000012.11:g.116429695C>T , CM000674.1:g.116429695C>T	GRCh37
NC_000012.10:g.114914078C>T	NCBI36
NG_023366.1:g.290297G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.3064G>A MANE Select	ENSP00000281928.3:p.Val1022Met
ENST00000548743.2:c.3034G>A	ENSP00000448553.2:p.Val1012Met
ENST00000549786.2:c.2492G>A
ENST00000648173.1:n.1859G>A
ENST00000648379.1:n.1432G>A
ENST00000648737.1:n.2828G>A
ENST00000648916.1:n.1075G>A
ENST00000649607.1:c.1248G>A
ENST00000650226.1:c.3064G>A	ENSP00000496981.1:p.Val1022Met
ENST00000281928.7:c.3064G>A	ENSP00000281928.3:p.Val1022Met
NM_015335.4:c.3064G>A	NP_056150.1:p.Val1022Met
XM_011538080.1:c.3064G>A	XP_011536382.1:p.Val1022Met
XM_011538081.1:c.3061G>A	XP_011536383.1:p.Val1021Met
XM_011538082.1:c.3034G>A	XP_011536384.1:p.Val1012Met
XM_011538080.2:c.3064G>A	XP_011536382.1:p.Val1022Met
XM_011538081.2:c.3061G>A	XP_011536383.1:p.Val1021Met
XM_011538082.2:c.3034G>A	XP_011536384.1:p.Val1012Met
XM_017019090.1:c.3061G>A	XP_016874579.1:p.Val1021Met
NM_015335.5:c.3064G>A MANE Select	NP_056150.1:p.Val1022Met