Canonical Allele Identifier: CA481946750

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116420405A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115982600A>T , CM000674.2:g.115982600A>T	GRCh38
NC_000012.11:g.116420405A>T , CM000674.1:g.116420405A>T	GRCh37
NC_000012.10:g.114904788A>T	NCBI36
NG_023366.1:g.299587T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.4959T>A MANE Select	ENSP00000281928.3:p.Val1653=
ENST00000549786.2:c.4387T>A
ENST00000648379.1:n.3327T>A
ENST00000648737.1:n.4723T>A
ENST00000648825.1:n.1699T>A
ENST00000648916.1:n.2970T>A
ENST00000649146.1:n.2202T>A
ENST00000649607.1:c.3143T>A
ENST00000649775.1:c.1453-5T>A
ENST00000650226.1:c.4959T>A	ENSP00000496981.1:p.Val1653=
ENST00000281928.7:c.4959T>A	ENSP00000281928.3:p.Val1653=
ENST00000549786.1:c.323T>A
NM_015335.4:c.4959T>A	NP_056150.1:p.Val1653=
XM_011538080.1:c.4959T>A	XP_011536382.1:p.Val1653=
XM_011538081.1:c.4956T>A	XP_011536383.1:p.Val1652=
XM_011538082.1:c.4929T>A	XP_011536384.1:p.Val1643=
XM_011538080.2:c.4959T>A	XP_011536382.1:p.Val1653=
XM_011538081.2:c.4956T>A	XP_011536383.1:p.Val1652=
XM_011538082.2:c.4929T>A	XP_011536384.1:p.Val1643=
XM_017019090.1:c.4956T>A	XP_016874579.1:p.Val1652=
NM_015335.5:c.4959T>A MANE Select	NP_056150.1:p.Val1653=