Canonical Allele Identifier: CA386878747

Gene: MED13L

Linked Data

• dbSNP Id: rs1215206917
• gnomAD v3: 12-115975312-A-T
• gnomAD v4: 12-115975312-A-T
• MyVariant Identifiers: chr12:g.116413117A>T (hg19) ; chr12:g.115975312A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115975312A>T , CM000674.2:g.115975312A>T	GRCh38
NC_000012.11:g.116413117A>T , CM000674.1:g.116413117A>T	GRCh37
NC_000012.10:g.114897500A>T	NCBI36
NG_023366.1:g.306875T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5590T>A MANE Select	ENSP00000281928.3:p.Ser1864Thr
ENST00000548694.2:n.580T>A
ENST00000648379.1:n.3958T>A
ENST00000648737.1:n.5354T>A
ENST00000648825.1:n.3775T>A
ENST00000648916.1:n.3601T>A
ENST00000649607.1:c.3774T>A
ENST00000649775.1:c.2079T>A
ENST00000650226.1:c.5626T>A	ENSP00000496981.1:p.Ser1876Thr
ENST00000281928.7:c.5590T>A	ENSP00000281928.3:p.Ser1864Thr
ENST00000548694.1:n.580T>A
ENST00000552447.1:c.203T>A
NM_015335.4:c.5590T>A	NP_056150.1:p.Ser1864Thr
XM_011538080.1:c.5626T>A	XP_011536382.1:p.Ser1876Thr
XM_011538081.1:c.5623T>A	XP_011536383.1:p.Ser1875Thr
XM_011538082.1:c.5596T>A	XP_011536384.1:p.Ser1866Thr
XM_011538080.2:c.5626T>A	XP_011536382.1:p.Ser1876Thr
XM_011538081.2:c.5623T>A	XP_011536383.1:p.Ser1875Thr
XM_011538082.2:c.5596T>A	XP_011536384.1:p.Ser1866Thr
XM_017019090.1:c.5587T>A	XP_016874579.1:p.Ser1863Thr
NM_015335.5:c.5590T>A MANE Select	NP_056150.1:p.Ser1864Thr