Canonical Allele Identifier: CA6810684

Gene: MED13L

Linked Data

• ClinVar Variation Id: 695333
• ClinVar RCV Id: RCV002064429
• dbSNP Id: rs755349611
• ExAC: 12:116420375 C / T
• gnomAD v2: 12-116420375-C-T
• gnomAD v3: 12-115982570-C-T
• gnomAD v4: 12-115982570-C-T
• MyVariant Identifiers: chr12:g.116420375C>T (hg19) ; chr12:g.115982570C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115982570C>T , CM000674.2:g.115982570C>T	GRCh38
NC_000012.11:g.116420375C>T , CM000674.1:g.116420375C>T	GRCh37
NC_000012.10:g.114904758C>T	NCBI36
NG_023366.1:g.299617G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.4989G>A MANE Select	ENSP00000281928.3:p.Thr1663=
ENST00000549786.2:c.4417G>A
ENST00000648379.1:n.3357G>A
ENST00000648737.1:n.4753G>A
ENST00000648825.1:n.1729G>A
ENST00000648916.1:n.3000G>A
ENST00000649146.1:n.2232G>A
ENST00000649607.1:c.3173G>A
ENST00000649775.1:c.1478G>A
ENST00000650226.1:c.4989G>A	ENSP00000496981.1:p.Thr1663=
ENST00000281928.7:c.4989G>A	ENSP00000281928.3:p.Thr1663=
ENST00000549786.1:c.353G>A
ENST00000552340.1:c.21G>A	ENSP00000449876.1:p.Thr7=
NM_015335.4:c.4989G>A	NP_056150.1:p.Thr1663=
XM_011538080.1:c.4989G>A	XP_011536382.1:p.Thr1663=
XM_011538081.1:c.4986G>A	XP_011536383.1:p.Thr1662=
XM_011538082.1:c.4959G>A	XP_011536384.1:p.Thr1653=
XM_011538080.2:c.4989G>A	XP_011536382.1:p.Thr1663=
XM_011538081.2:c.4986G>A	XP_011536383.1:p.Thr1662=
XM_011538082.2:c.4959G>A	XP_011536384.1:p.Thr1653=
XM_017019090.1:c.4986G>A	XP_016874579.1:p.Thr1662=
NM_015335.5:c.4989G>A MANE Select	NP_056150.1:p.Thr1663=