Canonical Allele Identifier: CA482137345

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116429282G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115991477G>C , CM000674.2:g.115991477G>C	GRCh38
NC_000012.11:g.116429282G>C , CM000674.1:g.116429282G>C	GRCh37
NC_000012.10:g.114913665G>C	NCBI36
NG_023366.1:g.290710C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.3477C>G MANE Select	ENSP00000281928.3:p.Arg1159=
ENST00000549786.2:c.2905C>G
ENST00000648379.1:n.1845C>G
ENST00000648737.1:n.3241C>G
ENST00000648825.1:n.217C>G
ENST00000648916.1:n.1488C>G
ENST00000649607.1:c.1661C>G
ENST00000650226.1:c.3477C>G	ENSP00000496981.1:p.Arg1159=
ENST00000281928.7:c.3477C>G	ENSP00000281928.3:p.Arg1159=
NM_015335.4:c.3477C>G	NP_056150.1:p.Arg1159=
XM_011538080.1:c.3477C>G	XP_011536382.1:p.Arg1159=
XM_011538081.1:c.3474C>G	XP_011536383.1:p.Arg1158=
XM_011538082.1:c.3447C>G	XP_011536384.1:p.Arg1149=
XM_011538080.2:c.3477C>G	XP_011536382.1:p.Arg1159=
XM_011538081.2:c.3474C>G	XP_011536383.1:p.Arg1158=
XM_011538082.2:c.3447C>G	XP_011536384.1:p.Arg1149=
XM_017019090.1:c.3474C>G	XP_016874579.1:p.Arg1158=
NM_015335.5:c.3477C>G MANE Select	NP_056150.1:p.Arg1159=