Canonical Allele Identifier: CA386890689

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116434928T>A (hg19) ; chr12:g.115997123T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115997123T>A , CM000674.2:g.115997123T>A	GRCh38
NC_000012.11:g.116434928T>A , CM000674.1:g.116434928T>A	GRCh37
NC_000012.10:g.114919311T>A	NCBI36
NG_023366.1:g.285064A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.2677A>T MANE Select	ENSP00000281928.3:p.Thr893Ser
ENST00000548743.2:c.2647A>T	ENSP00000448553.2:p.Thr883Ser
ENST00000549786.2:c.2105A>T
ENST00000647927.1:n.3050A>T
ENST00000648173.1:n.1472A>T
ENST00000648379.1:n.1045A>T
ENST00000648737.1:n.2441A>T
ENST00000648916.1:n.688A>T
ENST00000649607.1:c.861A>T
ENST00000650226.1:c.2677A>T	ENSP00000496981.1:p.Thr893Ser
ENST00000281928.7:c.2677A>T	ENSP00000281928.3:p.Thr893Ser
NM_015335.4:c.2677A>T	NP_056150.1:p.Thr893Ser
XM_011538080.1:c.2677A>T	XP_011536382.1:p.Thr893Ser
XM_011538081.1:c.2674A>T	XP_011536383.1:p.Thr892Ser
XM_011538082.1:c.2647A>T	XP_011536384.1:p.Thr883Ser
XM_011538080.2:c.2677A>T	XP_011536382.1:p.Thr893Ser
XM_011538081.2:c.2674A>T	XP_011536383.1:p.Thr892Ser
XM_011538082.2:c.2647A>T	XP_011536384.1:p.Thr883Ser
XM_017019090.1:c.2674A>T	XP_016874579.1:p.Thr892Ser
NM_015335.5:c.2677A>T MANE Select	NP_056150.1:p.Thr893Ser