Canonical Allele Identifier: CA6810820

Gene: MED13L

Linked Data

• ClinVar Variation Id: 2043759
• ClinVar RCV Id: RCV002895905
• dbSNP Id: rs772341564
• ExAC: 12:116422197 C / A
• gnomAD v2: 12-116422197-C-A
• gnomAD v4: 12-115984392-C-A
• MyVariant Identifiers: chr12:g.116422197C>A (hg19) ; chr12:g.116422197_116422204delinsAATTAGTT (hg19) ; chr12:g.115984392C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115984392C>A , CM000674.2:g.115984392C>A	GRCh38
NC_000012.11:g.116422197C>A , CM000674.1:g.116422197C>A	GRCh37
NC_000012.10:g.114906580C>A	NCBI36
NG_023366.1:g.297795G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.4339-20G>T MANE Select	ENSP00000281928.3:n.4339-20G>T
ENST00000549786.2:c.3767-20G>T
ENST00000648379.1:n.2707-20G>T
ENST00000648737.1:n.4103-20G>T
ENST00000648825.1:n.1079-20G>T
ENST00000648916.1:n.2350-20G>T
ENST00000649146.1:n.1049G>T
ENST00000649607.1:c.2523-20G>T
ENST00000649775.1:c.836-20G>T
ENST00000650091.1:n.2315-20G>T
ENST00000650226.1:c.4339-20G>T	ENSP00000496981.1:n.4339-20G>T
ENST00000281928.7:c.4339-20G>T	ENSP00000281928.3:n.4339-20G>T
NM_015335.4:c.4339-20G>T	NP_056150.1:n.4339-20G>T
XM_011538080.1:c.4339-20G>T	XP_011536382.1:n.4339-20G>T
XM_011538081.1:c.4336-20G>T	XP_011536383.1:n.4336-20G>T
XM_011538082.1:c.4309-20G>T	XP_011536384.1:n.4309-20G>T
XM_011538080.2:c.4339-20G>T	XP_011536382.1:n.4339-20G>T
XM_011538081.2:c.4336-20G>T	XP_011536383.1:n.4336-20G>T
XM_011538082.2:c.4309-20G>T	XP_011536384.1:n.4309-20G>T
XM_017019090.1:c.4336-20G>T	XP_016874579.1:n.4336-20G>T
NM_015335.5:c.4339-20G>T MANE Select	NP_056150.1:n.4339-20G>T