Canonical Allele Identifier: CA482137237

Gene: MED13L

Linked Data

• gnomAD v4: 12-115991666-C-T
• MyVariant Identifiers: chr12:g.116429471C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115991666C>T , CM000674.2:g.115991666C>T	GRCh38
NC_000012.11:g.116429471C>T , CM000674.1:g.116429471C>T	GRCh37
NC_000012.10:g.114913854C>T	NCBI36
NG_023366.1:g.290521G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.3288G>A MANE Select	ENSP00000281928.3:p.Glu1096=
ENST00000549786.2:c.2716G>A
ENST00000648379.1:n.1656G>A
ENST00000648737.1:n.3052G>A
ENST00000648825.1:n.28G>A
ENST00000648916.1:n.1299G>A
ENST00000649607.1:c.1472G>A
ENST00000650226.1:c.3288G>A	ENSP00000496981.1:p.Glu1096=
ENST00000281928.7:c.3288G>A	ENSP00000281928.3:p.Glu1096=
NM_015335.4:c.3288G>A	NP_056150.1:p.Glu1096=
XM_011538080.1:c.3288G>A	XP_011536382.1:p.Glu1096=
XM_011538081.1:c.3285G>A	XP_011536383.1:p.Glu1095=
XM_011538082.1:c.3258G>A	XP_011536384.1:p.Glu1086=
XM_011538080.2:c.3288G>A	XP_011536382.1:p.Glu1096=
XM_011538081.2:c.3285G>A	XP_011536383.1:p.Glu1095=
XM_011538082.2:c.3258G>A	XP_011536384.1:p.Glu1086=
XM_017019090.1:c.3285G>A	XP_016874579.1:p.Glu1095=
NM_015335.5:c.3288G>A MANE Select	NP_056150.1:p.Glu1096=