Canonical Allele Identifier: CA481948877

Gene: MED13L

Linked Data

• dbSNP Id: rs1878082413
• MyVariant Identifiers: chr12:g.116429675G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115991870G>T , CM000674.2:g.115991870G>T	GRCh38
NC_000012.11:g.116429675G>T , CM000674.1:g.116429675G>T	GRCh37
NC_000012.10:g.114914058G>T	NCBI36
NG_023366.1:g.290317C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.3084C>A MANE Select	ENSP00000281928.3:p.Ala1028=
ENST00000548743.2:c.3054C>A	ENSP00000448553.2:p.Ala1018=
ENST00000549786.2:c.2512C>A
ENST00000648173.1:n.1879C>A
ENST00000648379.1:n.1452C>A
ENST00000648737.1:n.2848C>A
ENST00000648916.1:n.1095C>A
ENST00000649607.1:c.1268C>A
ENST00000650226.1:c.3084C>A	ENSP00000496981.1:p.Ala1028=
ENST00000281928.7:c.3084C>A	ENSP00000281928.3:p.Ala1028=
NM_015335.4:c.3084C>A	NP_056150.1:p.Ala1028=
XM_011538080.1:c.3084C>A	XP_011536382.1:p.Ala1028=
XM_011538081.1:c.3081C>A	XP_011536383.1:p.Ala1027=
XM_011538082.1:c.3054C>A	XP_011536384.1:p.Ala1018=
XM_011538080.2:c.3084C>A	XP_011536382.1:p.Ala1028=
XM_011538081.2:c.3081C>A	XP_011536383.1:p.Ala1027=
XM_011538082.2:c.3054C>A	XP_011536384.1:p.Ala1018=
XM_017019090.1:c.3081C>A	XP_016874579.1:p.Ala1027=
NM_015335.5:c.3084C>A MANE Select	NP_056150.1:p.Ala1028=