Canonical Allele Identifier: CA6810678

Gene: MED13L

Linked Data

• dbSNP Id: rs760103366
• ExAC: 12:116420282 A / G
• gnomAD v2: 12-116420282-A-G
• gnomAD v4: 12-115982477-A-G
• MyVariant Identifiers: chr12:g.116420282A>G (hg19) ; chr12:g.115982477A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115982477A>G , CM000674.2:g.115982477A>G	GRCh38
NC_000012.11:g.116420282A>G , CM000674.1:g.116420282A>G	GRCh37
NC_000012.10:g.114904665A>G	NCBI36
NG_023366.1:g.299710T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5082T>C MANE Select	ENSP00000281928.3:p.Thr1694=
ENST00000549786.2:c.4510T>C
ENST00000648379.1:n.3450T>C
ENST00000648737.1:n.4846T>C
ENST00000648825.1:n.1822T>C
ENST00000648916.1:n.3093T>C
ENST00000649146.1:n.2325T>C
ENST00000649607.1:c.3266T>C
ENST00000649775.1:c.1571T>C
ENST00000650226.1:c.5082T>C	ENSP00000496981.1:p.Thr1694=
ENST00000281928.7:c.5082T>C	ENSP00000281928.3:p.Thr1694=
ENST00000549786.1:c.446T>C
ENST00000552340.1:c.114T>C	ENSP00000449876.1:p.Thr38=
NM_015335.4:c.5082T>C	NP_056150.1:p.Thr1694=
XM_011538080.1:c.5082T>C	XP_011536382.1:p.Thr1694=
XM_011538081.1:c.5079T>C	XP_011536383.1:p.Thr1693=
XM_011538082.1:c.5052T>C	XP_011536384.1:p.Thr1684=
XM_011538080.2:c.5082T>C	XP_011536382.1:p.Thr1694=
XM_011538081.2:c.5079T>C	XP_011536383.1:p.Thr1693=
XM_011538082.2:c.5052T>C	XP_011536384.1:p.Thr1684=
XM_017019090.1:c.5079T>C	XP_016874579.1:p.Thr1693=
NM_015335.5:c.5082T>C MANE Select	NP_056150.1:p.Thr1694=