Canonical Allele Identifier: CA386876476

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116408524T>A (hg19) ; chr12:g.115970719T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115970719T>A , CM000674.2:g.115970719T>A	GRCh38
NC_000012.11:g.116408524T>A , CM000674.1:g.116408524T>A	GRCh37
NC_000012.10:g.114892907T>A	NCBI36
NG_023366.1:g.311468A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000281928.9:c.5942A>T MANE Select	ENSP00000281928.3:p.Gln1981Leu
ENST00000548784.2:n.2156A>T
ENST00000648379.1:n.4310A>T
ENST00000648737.1:n.5706A>T
ENST00000648825.1:n.4127A>T
ENST00000648916.1:n.3953A>T
ENST00000649607.1:c.4126A>T
ENST00000649775.1:c.2431A>T
ENST00000650226.1:c.5978A>T	ENSP00000496981.1:p.Gln1993Leu
ENST00000281928.7:c.5942A>T	ENSP00000281928.3:p.Gln1981Leu
ENST00000548784.1:n.440A>T
ENST00000552447.1:c.555A>T
NM_015335.4:c.5942A>T	NP_056150.1:p.Gln1981Leu
XM_011538080.1:c.5978A>T	XP_011536382.1:p.Gln1993Leu
XM_011538081.1:c.5975A>T	XP_011536383.1:p.Gln1992Leu
XM_011538082.1:c.5948A>T	XP_011536384.1:p.Gln1983Leu
XM_011538080.2:c.5978A>T	XP_011536382.1:p.Gln1993Leu
XM_011538081.2:c.5975A>T	XP_011536383.1:p.Gln1992Leu
XM_011538082.2:c.5948A>T	XP_011536384.1:p.Gln1983Leu
XM_017019090.1:c.5939A>T	XP_016874579.1:p.Gln1980Leu
NM_015335.5:c.5942A>T MANE Select	NP_056150.1:p.Gln1981Leu