Canonical Allele Identifier: CA482137364

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116429300G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115991495G>T , CM000674.2:g.115991495G>T	GRCh38
NC_000012.11:g.116429300G>T , CM000674.1:g.116429300G>T	GRCh37
NC_000012.10:g.114913683G>T	NCBI36
NG_023366.1:g.290692C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.3459C>A MANE Select	ENSP00000281928.3:p.Ser1153=
ENST00000549786.2:c.2887C>A
ENST00000648379.1:n.1827C>A
ENST00000648737.1:n.3223C>A
ENST00000648825.1:n.199C>A
ENST00000648916.1:n.1470C>A
ENST00000649607.1:c.1643C>A
ENST00000650226.1:c.3459C>A	ENSP00000496981.1:p.Ser1153=
ENST00000281928.7:c.3459C>A	ENSP00000281928.3:p.Ser1153=
NM_015335.4:c.3459C>A	NP_056150.1:p.Ser1153=
XM_011538080.1:c.3459C>A	XP_011536382.1:p.Ser1153=
XM_011538081.1:c.3456C>A	XP_011536383.1:p.Ser1152=
XM_011538082.1:c.3429C>A	XP_011536384.1:p.Ser1143=
XM_011538080.2:c.3459C>A	XP_011536382.1:p.Ser1153=
XM_011538081.2:c.3456C>A	XP_011536383.1:p.Ser1152=
XM_011538082.2:c.3429C>A	XP_011536384.1:p.Ser1143=
XM_017019090.1:c.3456C>A	XP_016874579.1:p.Ser1152=
NM_015335.5:c.3459C>A MANE Select	NP_056150.1:p.Ser1153=