Canonical Allele Identifier: CA482137241

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116429474C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115991669C>A , CM000674.2:g.115991669C>A	GRCh38
NC_000012.11:g.116429474C>A , CM000674.1:g.116429474C>A	GRCh37
NC_000012.10:g.114913857C>A	NCBI36
NG_023366.1:g.290518G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.3285G>T MANE Select	ENSP00000281928.3:p.Val1095=
ENST00000549786.2:c.2713G>T
ENST00000648379.1:n.1653G>T
ENST00000648737.1:n.3049G>T
ENST00000648825.1:n.25G>T
ENST00000648916.1:n.1296G>T
ENST00000649607.1:c.1469G>T
ENST00000650226.1:c.3285G>T	ENSP00000496981.1:p.Val1095=
ENST00000281928.7:c.3285G>T	ENSP00000281928.3:p.Val1095=
NM_015335.4:c.3285G>T	NP_056150.1:p.Val1095=
XM_011538080.1:c.3285G>T	XP_011536382.1:p.Val1095=
XM_011538081.1:c.3282G>T	XP_011536383.1:p.Val1094=
XM_011538082.1:c.3255G>T	XP_011536384.1:p.Val1085=
XM_011538080.2:c.3285G>T	XP_011536382.1:p.Val1095=
XM_011538081.2:c.3282G>T	XP_011536383.1:p.Val1094=
XM_011538082.2:c.3255G>T	XP_011536384.1:p.Val1085=
XM_017019090.1:c.3282G>T	XP_016874579.1:p.Val1094=
NM_015335.5:c.3285G>T MANE Select	NP_056150.1:p.Val1095=