Canonical Allele Identifier: CA481944686

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116413007T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115975202T>A , CM000674.2:g.115975202T>A	GRCh38
NC_000012.11:g.116413007T>A , CM000674.1:g.116413007T>A	GRCh37
NC_000012.10:g.114897390T>A	NCBI36
NG_023366.1:g.306985A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5700A>T MANE Select	ENSP00000281928.3:p.Arg1900=
ENST00000548694.2:n.690A>T
ENST00000648379.1:n.4068A>T
ENST00000648737.1:n.5464A>T
ENST00000648825.1:n.3885A>T
ENST00000648916.1:n.3711A>T
ENST00000649607.1:c.3884A>T
ENST00000649775.1:c.2189A>T
ENST00000650226.1:c.5736A>T	ENSP00000496981.1:p.Arg1912=
ENST00000281928.7:c.5700A>T	ENSP00000281928.3:p.Arg1900=
ENST00000548694.1:n.690A>T
ENST00000552447.1:c.313A>T
NM_015335.4:c.5700A>T	NP_056150.1:p.Arg1900=
XM_011538080.1:c.5736A>T	XP_011536382.1:p.Arg1912=
XM_011538081.1:c.5733A>T	XP_011536383.1:p.Arg1911=
XM_011538082.1:c.5706A>T	XP_011536384.1:p.Arg1902=
XM_011538080.2:c.5736A>T	XP_011536382.1:p.Arg1912=
XM_011538081.2:c.5733A>T	XP_011536383.1:p.Arg1911=
XM_011538082.2:c.5706A>T	XP_011536384.1:p.Arg1902=
XM_017019090.1:c.5697A>T	XP_016874579.1:p.Arg1899=
NM_015335.5:c.5700A>T MANE Select	NP_056150.1:p.Arg1900=