Canonical Allele Identifier: CA6811648

Gene: MED13L

Linked Data

• dbSNP Id: rs777631364
• ExAC: 12:116460376 A / T
• gnomAD v2: 12-116460376-A-T
• MyVariant Identifiers: chr12:g.116460376A>T (hg19) ; chr12:g.116022571A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.116022571A>T , CM000674.2:g.116022571A>T	GRCh38
NC_000012.11:g.116460376A>T , CM000674.1:g.116460376A>T	GRCh37
NC_000012.10:g.114944759A>T	NCBI36
NG_023366.1:g.259616T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000281928.9:c.510T>A MANE Select	ENSP00000281928.3:p.Phe170Leu
ENST00000548743.2:c.480T>A	ENSP00000448553.2:p.Phe160Leu
ENST00000647567.1:c.420T>A	ENSP00000497136.1:p.Phe140Leu
ENST00000648737.1:n.274T>A
ENST00000650226.1:c.510T>A	ENSP00000496981.1:p.Phe170Leu
ENST00000281928.7:c.510T>A	ENSP00000281928.3:p.Phe170Leu
NM_015335.4:c.510T>A	NP_056150.1:p.Phe170Leu
XM_011538080.1:c.510T>A	XP_011536382.1:p.Phe170Leu
XM_011538081.1:c.510T>A	XP_011536383.1:p.Phe170Leu
XM_011538082.1:c.480T>A	XP_011536384.1:p.Phe160Leu
XM_011538080.2:c.510T>A	XP_011536382.1:p.Phe170Leu
XM_011538081.2:c.510T>A	XP_011536383.1:p.Phe170Leu
XM_011538082.2:c.480T>A	XP_011536384.1:p.Phe160Leu
XM_017019090.1:c.510T>A	XP_016874579.1:p.Phe170Leu
NM_015335.5:c.510T>A MANE Select	NP_056150.1:p.Phe170Leu