Canonical Allele Identifier: CA386880988

Gene: MED13L

Linked Data

• gnomAD v4: 12-115982395-A-G
• MyVariant Identifiers: chr12:g.116420200A>G (hg19) ; chr12:g.115982395A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115982395A>G , CM000674.2:g.115982395A>G	GRCh38
NC_000012.11:g.116420200A>G , CM000674.1:g.116420200A>G	GRCh37
NC_000012.10:g.114904583A>G	NCBI36
NG_023366.1:g.299792T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5164T>C MANE Select	ENSP00000281928.3:p.Phe1722Leu
ENST00000549786.2:c.4592T>C
ENST00000648379.1:n.3532T>C
ENST00000648737.1:n.4928T>C
ENST00000648825.1:n.1904T>C
ENST00000648916.1:n.3175T>C
ENST00000649146.1:n.2407T>C
ENST00000649607.1:c.3348T>C
ENST00000649775.1:c.1653T>C
ENST00000650226.1:c.5164T>C	ENSP00000496981.1:p.Phe1722Leu
ENST00000281928.7:c.5164T>C	ENSP00000281928.3:p.Phe1722Leu
ENST00000549786.1:c.528T>C
ENST00000552340.1:c.196T>C	ENSP00000449876.1:p.Phe66Leu
NM_015335.4:c.5164T>C	NP_056150.1:p.Phe1722Leu
XM_011538080.1:c.5164T>C	XP_011536382.1:p.Phe1722Leu
XM_011538081.1:c.5161T>C	XP_011536383.1:p.Phe1721Leu
XM_011538082.1:c.5134T>C	XP_011536384.1:p.Phe1712Leu
XM_011538080.2:c.5164T>C	XP_011536382.1:p.Phe1722Leu
XM_011538081.2:c.5161T>C	XP_011536383.1:p.Phe1721Leu
XM_011538082.2:c.5134T>C	XP_011536384.1:p.Phe1712Leu
XM_017019090.1:c.5161T>C	XP_016874579.1:p.Phe1721Leu
NM_015335.5:c.5164T>C MANE Select	NP_056150.1:p.Phe1722Leu