Canonical Allele Identifier: CA481945953

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116420228A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115982423A>G , CM000674.2:g.115982423A>G	GRCh38
NC_000012.11:g.116420228A>G , CM000674.1:g.116420228A>G	GRCh37
NC_000012.10:g.114904611A>G	NCBI36
NG_023366.1:g.299764T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5136T>C MANE Select	ENSP00000281928.3:p.Asp1712=
ENST00000549786.2:c.4564T>C
ENST00000648379.1:n.3504T>C
ENST00000648737.1:n.4900T>C
ENST00000648825.1:n.1876T>C
ENST00000648916.1:n.3147T>C
ENST00000649146.1:n.2379T>C
ENST00000649607.1:c.3320T>C
ENST00000649775.1:c.1625T>C
ENST00000650226.1:c.5136T>C	ENSP00000496981.1:p.Asp1712=
ENST00000281928.7:c.5136T>C	ENSP00000281928.3:p.Asp1712=
ENST00000549786.1:c.500T>C
ENST00000552340.1:c.168T>C	ENSP00000449876.1:p.Asp56=
NM_015335.4:c.5136T>C	NP_056150.1:p.Asp1712=
XM_011538080.1:c.5136T>C	XP_011536382.1:p.Asp1712=
XM_011538081.1:c.5133T>C	XP_011536383.1:p.Asp1711=
XM_011538082.1:c.5106T>C	XP_011536384.1:p.Asp1702=
XM_011538080.2:c.5136T>C	XP_011536382.1:p.Asp1712=
XM_011538081.2:c.5133T>C	XP_011536383.1:p.Asp1711=
XM_011538082.2:c.5106T>C	XP_011536384.1:p.Asp1702=
XM_017019090.1:c.5133T>C	XP_016874579.1:p.Asp1711=
NM_015335.5:c.5136T>C MANE Select	NP_056150.1:p.Asp1712=