Canonical Allele Identifier: CA386890473

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116434868A>T (hg19) ; chr12:g.115997063A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115997063A>T , CM000674.2:g.115997063A>T	GRCh38
NC_000012.11:g.116434868A>T , CM000674.1:g.116434868A>T	GRCh37
NC_000012.10:g.114919251A>T	NCBI36
NG_023366.1:g.285124T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.2737T>A MANE Select	ENSP00000281928.3:p.Phe913Ile
ENST00000548743.2:c.2707T>A	ENSP00000448553.2:p.Phe903Ile
ENST00000549786.2:c.2165T>A
ENST00000647927.1:n.3110T>A
ENST00000648173.1:n.1532T>A
ENST00000648379.1:n.1105T>A
ENST00000648737.1:n.2501T>A
ENST00000648916.1:n.748T>A
ENST00000649607.1:c.921T>A
ENST00000650226.1:c.2737T>A	ENSP00000496981.1:p.Phe913Ile
ENST00000281928.7:c.2737T>A	ENSP00000281928.3:p.Phe913Ile
NM_015335.4:c.2737T>A	NP_056150.1:p.Phe913Ile
XM_011538080.1:c.2737T>A	XP_011536382.1:p.Phe913Ile
XM_011538081.1:c.2734T>A	XP_011536383.1:p.Phe912Ile
XM_011538082.1:c.2707T>A	XP_011536384.1:p.Phe903Ile
XM_011538080.2:c.2737T>A	XP_011536382.1:p.Phe913Ile
XM_011538081.2:c.2734T>A	XP_011536383.1:p.Phe912Ile
XM_011538082.2:c.2707T>A	XP_011536384.1:p.Phe903Ile
XM_017019090.1:c.2734T>A	XP_016874579.1:p.Phe912Ile
NM_015335.5:c.2737T>A MANE Select	NP_056150.1:p.Phe913Ile