Canonical Allele Identifier: CA481946698

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116420369A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115982564A>G , CM000674.2:g.115982564A>G	GRCh38
NC_000012.11:g.116420369A>G , CM000674.1:g.116420369A>G	GRCh37
NC_000012.10:g.114904752A>G	NCBI36
NG_023366.1:g.299623T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.4995T>C MANE Select	ENSP00000281928.3:p.Pro1665=
ENST00000549786.2:c.4423T>C
ENST00000648379.1:n.3363T>C
ENST00000648737.1:n.4759T>C
ENST00000648825.1:n.1735T>C
ENST00000648916.1:n.3006T>C
ENST00000649146.1:n.2238T>C
ENST00000649607.1:c.3179T>C
ENST00000649775.1:c.1484T>C
ENST00000650226.1:c.4995T>C	ENSP00000496981.1:p.Pro1665=
ENST00000281928.7:c.4995T>C	ENSP00000281928.3:p.Pro1665=
ENST00000549786.1:c.359T>C
ENST00000552340.1:c.27T>C	ENSP00000449876.1:p.Pro9=
NM_015335.4:c.4995T>C	NP_056150.1:p.Pro1665=
XM_011538080.1:c.4995T>C	XP_011536382.1:p.Pro1665=
XM_011538081.1:c.4992T>C	XP_011536383.1:p.Pro1664=
XM_011538082.1:c.4965T>C	XP_011536384.1:p.Pro1655=
XM_011538080.2:c.4995T>C	XP_011536382.1:p.Pro1665=
XM_011538081.2:c.4992T>C	XP_011536383.1:p.Pro1664=
XM_011538082.2:c.4965T>C	XP_011536384.1:p.Pro1655=
XM_017019090.1:c.4992T>C	XP_016874579.1:p.Pro1664=
NM_015335.5:c.4995T>C MANE Select	NP_056150.1:p.Pro1665=