Canonical Allele Identifier: CA481946113

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116420261C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115982456C>T , CM000674.2:g.115982456C>T	GRCh38
NC_000012.11:g.116420261C>T , CM000674.1:g.116420261C>T	GRCh37
NC_000012.10:g.114904644C>T	NCBI36
NG_023366.1:g.299731G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5103G>A MANE Select	ENSP00000281928.3:p.Leu1701=
ENST00000549786.2:c.4531G>A
ENST00000648379.1:n.3471G>A
ENST00000648737.1:n.4867G>A
ENST00000648825.1:n.1843G>A
ENST00000648916.1:n.3114G>A
ENST00000649146.1:n.2346G>A
ENST00000649607.1:c.3287G>A
ENST00000649775.1:c.1592G>A
ENST00000650226.1:c.5103G>A	ENSP00000496981.1:p.Leu1701=
ENST00000281928.7:c.5103G>A	ENSP00000281928.3:p.Leu1701=
ENST00000549786.1:c.467G>A
ENST00000552340.1:c.135G>A	ENSP00000449876.1:p.Leu45=
NM_015335.4:c.5103G>A	NP_056150.1:p.Leu1701=
XM_011538080.1:c.5103G>A	XP_011536382.1:p.Leu1701=
XM_011538081.1:c.5100G>A	XP_011536383.1:p.Leu1700=
XM_011538082.1:c.5073G>A	XP_011536384.1:p.Leu1691=
XM_011538080.2:c.5103G>A	XP_011536382.1:p.Leu1701=
XM_011538081.2:c.5100G>A	XP_011536383.1:p.Leu1700=
XM_011538082.2:c.5073G>A	XP_011536384.1:p.Leu1691=
XM_017019090.1:c.5100G>A	XP_016874579.1:p.Leu1700=
NM_015335.5:c.5103G>A MANE Select	NP_056150.1:p.Leu1701=