Canonical Allele Identifier: CA386878678

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116413105T>A (hg19) ; chr12:g.115975300T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115975300T>A , CM000674.2:g.115975300T>A	GRCh38
NC_000012.11:g.116413105T>A , CM000674.1:g.116413105T>A	GRCh37
NC_000012.10:g.114897488T>A	NCBI36
NG_023366.1:g.306887A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5602A>T MANE Select	ENSP00000281928.3:p.Lys1868Ter
ENST00000548694.2:n.592A>T
ENST00000648379.1:n.3970A>T
ENST00000648737.1:n.5366A>T
ENST00000648825.1:n.3787A>T
ENST00000648916.1:n.3613A>T
ENST00000649607.1:c.3786A>T
ENST00000649775.1:c.2091A>T
ENST00000650226.1:c.5638A>T	ENSP00000496981.1:p.Lys1880Ter
ENST00000281928.7:c.5602A>T	ENSP00000281928.3:p.Lys1868Ter
ENST00000548694.1:n.592A>T
ENST00000552447.1:c.215A>T
NM_015335.4:c.5602A>T	NP_056150.1:p.Lys1868Ter
XM_011538080.1:c.5638A>T	XP_011536382.1:p.Lys1880Ter
XM_011538081.1:c.5635A>T	XP_011536383.1:p.Lys1879Ter
XM_011538082.1:c.5608A>T	XP_011536384.1:p.Lys1870Ter
XM_011538080.2:c.5638A>T	XP_011536382.1:p.Lys1880Ter
XM_011538081.2:c.5635A>T	XP_011536383.1:p.Lys1879Ter
XM_011538082.2:c.5608A>T	XP_011536384.1:p.Lys1870Ter
XM_017019090.1:c.5599A>T	XP_016874579.1:p.Lys1867Ter
NM_015335.5:c.5602A>T MANE Select	NP_056150.1:p.Lys1868Ter