Canonical Allele Identifier: CA386881319

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116420338C>T (hg19) ; chr12:g.115982533C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115982533C>T , CM000674.2:g.115982533C>T	GRCh38
NC_000012.11:g.116420338C>T , CM000674.1:g.116420338C>T	GRCh37
NC_000012.10:g.114904721C>T	NCBI36
NG_023366.1:g.299654G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5026G>A MANE Select	ENSP00000281928.3:p.Ala1676Thr
ENST00000549786.2:c.4454G>A
ENST00000648379.1:n.3394G>A
ENST00000648737.1:n.4790G>A
ENST00000648825.1:n.1766G>A
ENST00000648916.1:n.3037G>A
ENST00000649146.1:n.2269G>A
ENST00000649607.1:c.3210G>A
ENST00000649775.1:c.1515G>A
ENST00000650226.1:c.5026G>A	ENSP00000496981.1:p.Ala1676Thr
ENST00000281928.7:c.5026G>A	ENSP00000281928.3:p.Ala1676Thr
ENST00000549786.1:c.390G>A
ENST00000552340.1:c.58G>A	ENSP00000449876.1:p.Ala20Thr
NM_015335.4:c.5026G>A	NP_056150.1:p.Ala1676Thr
XM_011538080.1:c.5026G>A	XP_011536382.1:p.Ala1676Thr
XM_011538081.1:c.5023G>A	XP_011536383.1:p.Ala1675Thr
XM_011538082.1:c.4996G>A	XP_011536384.1:p.Ala1666Thr
XM_011538080.2:c.5026G>A	XP_011536382.1:p.Ala1676Thr
XM_011538081.2:c.5023G>A	XP_011536383.1:p.Ala1675Thr
XM_011538082.2:c.4996G>A	XP_011536384.1:p.Ala1666Thr
XM_017019090.1:c.5023G>A	XP_016874579.1:p.Ala1675Thr
NM_015335.5:c.5026G>A MANE Select	NP_056150.1:p.Ala1676Thr