Canonical Allele Identifier: CA16619445

Gene: MED13L

Linked Data

• ClinVar Variation Id: 418865
• ClinVar RCV Id: RCV000481745
• dbSNP Id: rs1064793483
• MyVariant Identifiers: chr12:g.116440853G>A (hg19) ; chr12:g.116003048G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.116003048G>A , CM000674.2:g.116003048G>A	GRCh38
NC_000012.11:g.116440853G>A , CM000674.1:g.116440853G>A	GRCh37
NC_000012.10:g.114925236G>A	NCBI36
NG_023366.1:g.279139C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000281928.9:c.2524C>T MANE Select	ENSP00000281928.3:p.Arg842Ter
ENST00000548743.2:c.2494C>T	ENSP00000448553.2:p.Arg832Ter
ENST00000549786.2:c.1952C>T
ENST00000648173.1:n.1319C>T
ENST00000648379.1:n.892C>T
ENST00000648737.1:n.2288C>T
ENST00000648916.1:n.535C>T
ENST00000649607.1:c.711C>T
ENST00000650226.1:c.2524C>T	ENSP00000496981.1:p.Arg842Ter
ENST00000281928.7:c.2524C>T	ENSP00000281928.3:p.Arg842Ter
NM_015335.4:c.2524C>T	NP_056150.1:p.Arg842Ter
XM_011538080.1:c.2524C>T	XP_011536382.1:p.Arg842Ter
XM_011538081.1:c.2524C>T	XP_011536383.1:p.Arg842Ter
XM_011538082.1:c.2494C>T	XP_011536384.1:p.Arg832Ter
XM_011538080.2:c.2524C>T	XP_011536382.1:p.Arg842Ter
XM_011538081.2:c.2524C>T	XP_011536383.1:p.Arg842Ter
XM_011538082.2:c.2494C>T	XP_011536384.1:p.Arg832Ter
XM_017019090.1:c.2524C>T	XP_016874579.1:p.Arg842Ter
NM_015335.5:c.2524C>T MANE Select	NP_056150.1:p.Arg842Ter