Canonical Allele Identifier: CA386878162

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116413006G>T (hg19) ; chr12:g.115975201G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115975201G>T , CM000674.2:g.115975201G>T	GRCh38
NC_000012.11:g.116413006G>T , CM000674.1:g.116413006G>T	GRCh37
NC_000012.10:g.114897389G>T	NCBI36
NG_023366.1:g.306986C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5701C>A MANE Select	ENSP00000281928.3:p.Leu1901Ile
ENST00000548694.2:n.691C>A
ENST00000648379.1:n.4069C>A
ENST00000648737.1:n.5465C>A
ENST00000648825.1:n.3886C>A
ENST00000648916.1:n.3712C>A
ENST00000649607.1:c.3885C>A
ENST00000649775.1:c.2190C>A
ENST00000650226.1:c.5737C>A	ENSP00000496981.1:p.Leu1913Ile
ENST00000281928.7:c.5701C>A	ENSP00000281928.3:p.Leu1901Ile
ENST00000548694.1:n.691C>A
ENST00000552447.1:c.314C>A
NM_015335.4:c.5701C>A	NP_056150.1:p.Leu1901Ile
XM_011538080.1:c.5737C>A	XP_011536382.1:p.Leu1913Ile
XM_011538081.1:c.5734C>A	XP_011536383.1:p.Leu1912Ile
XM_011538082.1:c.5707C>A	XP_011536384.1:p.Leu1903Ile
XM_011538080.2:c.5737C>A	XP_011536382.1:p.Leu1913Ile
XM_011538081.2:c.5734C>A	XP_011536383.1:p.Leu1912Ile
XM_011538082.2:c.5707C>A	XP_011536384.1:p.Leu1903Ile
XM_017019090.1:c.5698C>A	XP_016874579.1:p.Leu1900Ile
NM_015335.5:c.5701C>A MANE Select	NP_056150.1:p.Leu1901Ile