Canonical Allele Identifier: CA386890465

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116434867A>T (hg19) ; chr12:g.115997062A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115997062A>T , CM000674.2:g.115997062A>T	GRCh38
NC_000012.11:g.116434867A>T , CM000674.1:g.116434867A>T	GRCh37
NC_000012.10:g.114919250A>T	NCBI36
NG_023366.1:g.285125T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.2738T>A MANE Select	ENSP00000281928.3:p.Phe913Tyr
ENST00000548743.2:c.2708T>A	ENSP00000448553.2:p.Phe903Tyr
ENST00000549786.2:c.2166T>A
ENST00000647927.1:n.3111T>A
ENST00000648173.1:n.1533T>A
ENST00000648379.1:n.1106T>A
ENST00000648737.1:n.2502T>A
ENST00000648916.1:n.749T>A
ENST00000649607.1:c.922T>A
ENST00000650226.1:c.2738T>A	ENSP00000496981.1:p.Phe913Tyr
ENST00000281928.7:c.2738T>A	ENSP00000281928.3:p.Phe913Tyr
NM_015335.4:c.2738T>A	NP_056150.1:p.Phe913Tyr
XM_011538080.1:c.2738T>A	XP_011536382.1:p.Phe913Tyr
XM_011538081.1:c.2735T>A	XP_011536383.1:p.Phe912Tyr
XM_011538082.1:c.2708T>A	XP_011536384.1:p.Phe903Tyr
XM_011538080.2:c.2738T>A	XP_011536382.1:p.Phe913Tyr
XM_011538081.2:c.2735T>A	XP_011536383.1:p.Phe912Tyr
XM_011538082.2:c.2708T>A	XP_011536384.1:p.Phe903Tyr
XM_017019090.1:c.2735T>A	XP_016874579.1:p.Phe912Tyr
NM_015335.5:c.2738T>A MANE Select	NP_056150.1:p.Phe913Tyr