Canonical Allele Identifier: CA386881247

Gene: MED13L

Linked Data

• ClinVar Variation Id: 1299612
• ClinVar RCV Id: RCV001773776 ; RCV001779337
• dbSNP Id: rs1877397719
• MyVariant Identifiers: chr12:g.116420307G>A (hg19) ; chr12:g.115982502G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115982502G>A , CM000674.2:g.115982502G>A	GRCh38
NC_000012.11:g.116420307G>A , CM000674.1:g.116420307G>A	GRCh37
NC_000012.10:g.114904690G>A	NCBI36
NG_023366.1:g.299685C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5057C>T MANE Select	ENSP00000281928.3:p.Thr1686Met
ENST00000549786.2:c.4485C>T
ENST00000648379.1:n.3425C>T
ENST00000648737.1:n.4821C>T
ENST00000648825.1:n.1797C>T
ENST00000648916.1:n.3068C>T
ENST00000649146.1:n.2300C>T
ENST00000649607.1:c.3241C>T
ENST00000649775.1:c.1546C>T
ENST00000650226.1:c.5057C>T	ENSP00000496981.1:p.Thr1686Met
ENST00000281928.7:c.5057C>T	ENSP00000281928.3:p.Thr1686Met
ENST00000549786.1:c.421C>T
ENST00000552340.1:c.89C>T	ENSP00000449876.1:p.Thr30Met
NM_015335.4:c.5057C>T	NP_056150.1:p.Thr1686Met
XM_011538080.1:c.5057C>T	XP_011536382.1:p.Thr1686Met
XM_011538081.1:c.5054C>T	XP_011536383.1:p.Thr1685Met
XM_011538082.1:c.5027C>T	XP_011536384.1:p.Thr1676Met
XM_011538080.2:c.5057C>T	XP_011536382.1:p.Thr1686Met
XM_011538081.2:c.5054C>T	XP_011536383.1:p.Thr1685Met
XM_011538082.2:c.5027C>T	XP_011536384.1:p.Thr1676Met
XM_017019090.1:c.5054C>T	XP_016874579.1:p.Thr1685Met
NM_015335.5:c.5057C>T MANE Select	NP_056150.1:p.Thr1686Met