Canonical Allele Identifier: CA481946413

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116420309G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115982504G>A , CM000674.2:g.115982504G>A	GRCh38
NC_000012.11:g.116420309G>A , CM000674.1:g.116420309G>A	GRCh37
NC_000012.10:g.114904692G>A	NCBI36
NG_023366.1:g.299683C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5055C>T MANE Select	ENSP00000281928.3:p.Phe1685=
ENST00000549786.2:c.4483C>T
ENST00000648379.1:n.3423C>T
ENST00000648737.1:n.4819C>T
ENST00000648825.1:n.1795C>T
ENST00000648916.1:n.3066C>T
ENST00000649146.1:n.2298C>T
ENST00000649607.1:c.3239C>T
ENST00000649775.1:c.1544C>T
ENST00000650226.1:c.5055C>T	ENSP00000496981.1:p.Phe1685=
ENST00000281928.7:c.5055C>T	ENSP00000281928.3:p.Phe1685=
ENST00000549786.1:c.419C>T
ENST00000552340.1:c.87C>T	ENSP00000449876.1:p.Phe29=
NM_015335.4:c.5055C>T	NP_056150.1:p.Phe1685=
XM_011538080.1:c.5055C>T	XP_011536382.1:p.Phe1685=
XM_011538081.1:c.5052C>T	XP_011536383.1:p.Phe1684=
XM_011538082.1:c.5025C>T	XP_011536384.1:p.Phe1675=
XM_011538080.2:c.5055C>T	XP_011536382.1:p.Phe1685=
XM_011538081.2:c.5052C>T	XP_011536383.1:p.Phe1684=
XM_011538082.2:c.5025C>T	XP_011536384.1:p.Phe1675=
XM_017019090.1:c.5052C>T	XP_016874579.1:p.Phe1684=
NM_015335.5:c.5055C>T MANE Select	NP_056150.1:p.Phe1685=