Canonical Allele Identifier: CA6810685

Gene: MED13L

Linked Data

• ClinVar Variation Id: 855215
• ClinVar RCV Id: RCV001060426
• dbSNP Id: rs142102185
• ExAC: 12:116420376 G / A
• gnomAD v2: 12-116420376-G-A
• gnomAD v3: 12-115982571-G-A
• gnomAD v4: 12-115982571-G-A
• MyVariant Identifiers: chr12:g.116420376G>A (hg19) ; chr12:g.115982571G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115982571G>A , CM000674.2:g.115982571G>A	GRCh38
NC_000012.11:g.116420376G>A , CM000674.1:g.116420376G>A	GRCh37
NC_000012.10:g.114904759G>A	NCBI36
NG_023366.1:g.299616C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.4988C>T MANE Select	ENSP00000281928.3:p.Thr1663Met
ENST00000549786.2:c.4416C>T
ENST00000648379.1:n.3356C>T
ENST00000648737.1:n.4752C>T
ENST00000648825.1:n.1728C>T
ENST00000648916.1:n.2999C>T
ENST00000649146.1:n.2231C>T
ENST00000649607.1:c.3172C>T
ENST00000649775.1:c.1477C>T
ENST00000650226.1:c.4988C>T	ENSP00000496981.1:p.Thr1663Met
ENST00000281928.7:c.4988C>T	ENSP00000281928.3:p.Thr1663Met
ENST00000549786.1:c.352C>T
ENST00000552340.1:c.20C>T	ENSP00000449876.1:p.Thr7Met
NM_015335.4:c.4988C>T	NP_056150.1:p.Thr1663Met
XM_011538080.1:c.4988C>T	XP_011536382.1:p.Thr1663Met
XM_011538081.1:c.4985C>T	XP_011536383.1:p.Thr1662Met
XM_011538082.1:c.4958C>T	XP_011536384.1:p.Thr1653Met
XM_011538080.2:c.4988C>T	XP_011536382.1:p.Thr1663Met
XM_011538081.2:c.4985C>T	XP_011536383.1:p.Thr1662Met
XM_011538082.2:c.4958C>T	XP_011536384.1:p.Thr1653Met
XM_017019090.1:c.4985C>T	XP_016874579.1:p.Thr1662Met
NM_015335.5:c.4988C>T MANE Select	NP_056150.1:p.Thr1663Met