Canonical Allele Identifier: CA244149844

Gene: MED13L

Linked Data

• dbSNP Id: rs142205924
• gnomAD v2: 12-116429210-C-T
• gnomAD v3: 12-115991405-C-T
• gnomAD v4: 12-115991405-C-T
• MyVariant Identifiers: chr12:g.116429210C>T (hg19) ; chr12:g.115991405C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115991405C>T , CM000674.2:g.115991405C>T	GRCh38
NC_000012.11:g.116429210C>T , CM000674.1:g.116429210C>T	GRCh37
NC_000012.10:g.114913593C>T	NCBI36
NG_023366.1:g.290782G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.3549G>A MANE Select	ENSP00000281928.3:p.Glu1183=
ENST00000549786.2:c.2977G>A
ENST00000648379.1:n.1917G>A
ENST00000648737.1:n.3313G>A
ENST00000648825.1:n.289G>A
ENST00000648916.1:n.1560G>A
ENST00000649607.1:c.1733G>A
ENST00000649775.1:c.46G>A
ENST00000650226.1:c.3549G>A	ENSP00000496981.1:p.Glu1183=
ENST00000281928.7:c.3549G>A	ENSP00000281928.3:p.Glu1183=
NM_015335.4:c.3549G>A	NP_056150.1:p.Glu1183=
XM_011538080.1:c.3549G>A	XP_011536382.1:p.Glu1183=
XM_011538081.1:c.3546G>A	XP_011536383.1:p.Glu1182=
XM_011538082.1:c.3519G>A	XP_011536384.1:p.Glu1173=
XM_011538080.2:c.3549G>A	XP_011536382.1:p.Glu1183=
XM_011538081.2:c.3546G>A	XP_011536383.1:p.Glu1182=
XM_011538082.2:c.3519G>A	XP_011536384.1:p.Glu1173=
XM_017019090.1:c.3546G>A	XP_016874579.1:p.Glu1182=
NM_015335.5:c.3549G>A MANE Select	NP_056150.1:p.Glu1183=