Canonical Allele Identifier: CA481946509

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116420327A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115982522A>G , CM000674.2:g.115982522A>G	GRCh38
NC_000012.11:g.116420327A>G , CM000674.1:g.116420327A>G	GRCh37
NC_000012.10:g.114904710A>G	NCBI36
NG_023366.1:g.299665T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5037T>C MANE Select	ENSP00000281928.3:p.Ile1679=
ENST00000549786.2:c.4465T>C
ENST00000648379.1:n.3405T>C
ENST00000648737.1:n.4801T>C
ENST00000648825.1:n.1777T>C
ENST00000648916.1:n.3048T>C
ENST00000649146.1:n.2280T>C
ENST00000649607.1:c.3221T>C
ENST00000649775.1:c.1526T>C
ENST00000650226.1:c.5037T>C	ENSP00000496981.1:p.Ile1679=
ENST00000281928.7:c.5037T>C	ENSP00000281928.3:p.Ile1679=
ENST00000549786.1:c.401T>C
ENST00000552340.1:c.69T>C	ENSP00000449876.1:p.Ile23=
NM_015335.4:c.5037T>C	NP_056150.1:p.Ile1679=
XM_011538080.1:c.5037T>C	XP_011536382.1:p.Ile1679=
XM_011538081.1:c.5034T>C	XP_011536383.1:p.Ile1678=
XM_011538082.1:c.5007T>C	XP_011536384.1:p.Ile1669=
XM_011538080.2:c.5037T>C	XP_011536382.1:p.Ile1679=
XM_011538081.2:c.5034T>C	XP_011536383.1:p.Ile1678=
XM_011538082.2:c.5007T>C	XP_011536384.1:p.Ile1669=
XM_017019090.1:c.5034T>C	XP_016874579.1:p.Ile1678=
NM_015335.5:c.5037T>C MANE Select	NP_056150.1:p.Ile1679=