Canonical Allele Identifier: CA481943140

Gene: MED13L

Linked Data

• gnomAD v4: 12-115970610-C-T
• MyVariant Identifiers: chr12:g.116408415C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115970610C>T , CM000674.2:g.115970610C>T	GRCh38
NC_000012.11:g.116408415C>T , CM000674.1:g.116408415C>T	GRCh37
NC_000012.10:g.114892798C>T	NCBI36
NG_023366.1:g.311577G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000281928.9:c.6051G>A MANE Select	ENSP00000281928.3:p.Gly2017=
ENST00000548784.2:n.2265G>A
ENST00000648379.1:n.4419G>A
ENST00000648737.1:n.5815G>A
ENST00000648825.1:n.4236G>A
ENST00000648916.1:n.4062G>A
ENST00000649607.1:c.4235G>A
ENST00000649775.1:c.2540G>A
ENST00000650226.1:c.6087G>A	ENSP00000496981.1:p.Gly2029=
ENST00000281928.7:c.6051G>A	ENSP00000281928.3:p.Gly2017=
NM_015335.4:c.6051G>A	NP_056150.1:p.Gly2017=
XM_011538080.1:c.6087G>A	XP_011536382.1:p.Gly2029=
XM_011538081.1:c.6084G>A	XP_011536383.1:p.Gly2028=
XM_011538082.1:c.6057G>A	XP_011536384.1:p.Gly2019=
XM_011538080.2:c.6087G>A	XP_011536382.1:p.Gly2029=
XM_011538081.2:c.6084G>A	XP_011536383.1:p.Gly2028=
XM_011538082.2:c.6057G>A	XP_011536384.1:p.Gly2019=
XM_017019090.1:c.6048G>A	XP_016874579.1:p.Gly2016=
NM_015335.5:c.6051G>A MANE Select	NP_056150.1:p.Gly2017=