Canonical Allele Identifier: CA6810671

Gene: MED13L

Linked Data

• ClinVar Variation Id: 1147852
• ClinVar RCV Id: RCV001487494
• dbSNP Id: rs370324246
• ExAC: 12:116420249 G / A
• gnomAD v2: 12-116420249-G-A
• gnomAD v3: 12-115982444-G-A
• gnomAD v4: 12-115982444-G-A
• MyVariant Identifiers: chr12:g.116420249G>A (hg19) ; chr12:g.115982444G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115982444G>A , CM000674.2:g.115982444G>A	GRCh38
NC_000012.11:g.116420249G>A , CM000674.1:g.116420249G>A	GRCh37
NC_000012.10:g.114904632G>A	NCBI36
NG_023366.1:g.299743C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5115C>T MANE Select	ENSP00000281928.3:p.Arg1705=
ENST00000549786.2:c.4543C>T
ENST00000648379.1:n.3483C>T
ENST00000648737.1:n.4879C>T
ENST00000648825.1:n.1855C>T
ENST00000648916.1:n.3126C>T
ENST00000649146.1:n.2358C>T
ENST00000649607.1:c.3299C>T
ENST00000649775.1:c.1604C>T
ENST00000650226.1:c.5115C>T	ENSP00000496981.1:p.Arg1705=
ENST00000281928.7:c.5115C>T	ENSP00000281928.3:p.Arg1705=
ENST00000549786.1:c.479C>T
ENST00000552340.1:c.147C>T	ENSP00000449876.1:p.Arg49=
NM_015335.4:c.5115C>T	NP_056150.1:p.Arg1705=
XM_011538080.1:c.5115C>T	XP_011536382.1:p.Arg1705=
XM_011538081.1:c.5112C>T	XP_011536383.1:p.Arg1704=
XM_011538082.1:c.5085C>T	XP_011536384.1:p.Arg1695=
XM_011538080.2:c.5115C>T	XP_011536382.1:p.Arg1705=
XM_011538081.2:c.5112C>T	XP_011536383.1:p.Arg1704=
XM_011538082.2:c.5085C>T	XP_011536384.1:p.Arg1695=
XM_017019090.1:c.5112C>T	XP_016874579.1:p.Arg1704=
NM_015335.5:c.5115C>T MANE Select	NP_056150.1:p.Arg1705=