Canonical Allele Identifier: CA481944763

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116413028G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115975223G>T , CM000674.2:g.115975223G>T	GRCh38
NC_000012.11:g.116413028G>T , CM000674.1:g.116413028G>T	GRCh37
NC_000012.10:g.114897411G>T	NCBI36
NG_023366.1:g.306964C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5679C>A MANE Select	ENSP00000281928.3:p.Pro1893=
ENST00000548694.2:n.669C>A
ENST00000648379.1:n.4047C>A
ENST00000648737.1:n.5443C>A
ENST00000648825.1:n.3864C>A
ENST00000648916.1:n.3690C>A
ENST00000649607.1:c.3863C>A
ENST00000649775.1:c.2168C>A
ENST00000650226.1:c.5715C>A	ENSP00000496981.1:p.Pro1905=
ENST00000281928.7:c.5679C>A	ENSP00000281928.3:p.Pro1893=
ENST00000548694.1:n.669C>A
ENST00000552447.1:c.292C>A
NM_015335.4:c.5679C>A	NP_056150.1:p.Pro1893=
XM_011538080.1:c.5715C>A	XP_011536382.1:p.Pro1905=
XM_011538081.1:c.5712C>A	XP_011536383.1:p.Pro1904=
XM_011538082.1:c.5685C>A	XP_011536384.1:p.Pro1895=
XM_011538080.2:c.5715C>A	XP_011536382.1:p.Pro1905=
XM_011538081.2:c.5712C>A	XP_011536383.1:p.Pro1904=
XM_011538082.2:c.5685C>A	XP_011536384.1:p.Pro1895=
XM_017019090.1:c.5676C>A	XP_016874579.1:p.Pro1892=
NM_015335.5:c.5679C>A MANE Select	NP_056150.1:p.Pro1893=