Canonical Allele Identifier: CA386876187

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116408450G>A (hg19) ; chr12:g.115970645G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115970645G>A , CM000674.2:g.115970645G>A	GRCh38
NC_000012.11:g.116408450G>A , CM000674.1:g.116408450G>A	GRCh37
NC_000012.10:g.114892833G>A	NCBI36
NG_023366.1:g.311542C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.6016C>T MANE Select	ENSP00000281928.3:p.Gln2006Ter
ENST00000548784.2:n.2230C>T
ENST00000648379.1:n.4384C>T
ENST00000648737.1:n.5780C>T
ENST00000648825.1:n.4201C>T
ENST00000648916.1:n.4027C>T
ENST00000649607.1:c.4200C>T
ENST00000649775.1:c.2505C>T
ENST00000650226.1:c.6052C>T	ENSP00000496981.1:p.Gln2018Ter
ENST00000281928.7:c.6016C>T	ENSP00000281928.3:p.Gln2006Ter
NM_015335.4:c.6016C>T	NP_056150.1:p.Gln2006Ter
XM_011538080.1:c.6052C>T	XP_011536382.1:p.Gln2018Ter
XM_011538081.1:c.6049C>T	XP_011536383.1:p.Gln2017Ter
XM_011538082.1:c.6022C>T	XP_011536384.1:p.Gln2008Ter
XM_011538080.2:c.6052C>T	XP_011536382.1:p.Gln2018Ter
XM_011538081.2:c.6049C>T	XP_011536383.1:p.Gln2017Ter
XM_011538082.2:c.6022C>T	XP_011536384.1:p.Gln2008Ter
XM_017019090.1:c.6013C>T	XP_016874579.1:p.Gln2005Ter
NM_015335.5:c.6016C>T MANE Select	NP_056150.1:p.Gln2006Ter