Canonical Allele Identifier: CA386881306

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116420332C>A (hg19) ; chr12:g.115982527C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115982527C>A , CM000674.2:g.115982527C>A	GRCh38
NC_000012.11:g.116420332C>A , CM000674.1:g.116420332C>A	GRCh37
NC_000012.10:g.114904715C>A	NCBI36
NG_023366.1:g.299660G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5032G>T MANE Select	ENSP00000281928.3:p.Val1678Phe
ENST00000549786.2:c.4460G>T
ENST00000648379.1:n.3400G>T
ENST00000648737.1:n.4796G>T
ENST00000648825.1:n.1772G>T
ENST00000648916.1:n.3043G>T
ENST00000649146.1:n.2275G>T
ENST00000649607.1:c.3216G>T
ENST00000649775.1:c.1521G>T
ENST00000650226.1:c.5032G>T	ENSP00000496981.1:p.Val1678Phe
ENST00000281928.7:c.5032G>T	ENSP00000281928.3:p.Val1678Phe
ENST00000549786.1:c.396G>T
ENST00000552340.1:c.64G>T	ENSP00000449876.1:p.Val22Phe
NM_015335.4:c.5032G>T	NP_056150.1:p.Val1678Phe
XM_011538080.1:c.5032G>T	XP_011536382.1:p.Val1678Phe
XM_011538081.1:c.5029G>T	XP_011536383.1:p.Val1677Phe
XM_011538082.1:c.5002G>T	XP_011536384.1:p.Val1668Phe
XM_011538080.2:c.5032G>T	XP_011536382.1:p.Val1678Phe
XM_011538081.2:c.5029G>T	XP_011536383.1:p.Val1677Phe
XM_011538082.2:c.5002G>T	XP_011536384.1:p.Val1668Phe
XM_017019090.1:c.5029G>T	XP_016874579.1:p.Val1677Phe
NM_015335.5:c.5032G>T MANE Select	NP_056150.1:p.Val1678Phe