Canonical Allele Identifier: CA386882270

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116420391C>A (hg19) ; chr12:g.115982586C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115982586C>A , CM000674.2:g.115982586C>A	GRCh38
NC_000012.11:g.116420391C>A , CM000674.1:g.116420391C>A	GRCh37
NC_000012.10:g.114904774C>A	NCBI36
NG_023366.1:g.299601G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.4973G>T MANE Select	ENSP00000281928.3:p.Arg1658Ile
ENST00000549786.2:c.4401G>T
ENST00000648379.1:n.3341G>T
ENST00000648737.1:n.4737G>T
ENST00000648825.1:n.1713G>T
ENST00000648916.1:n.2984G>T
ENST00000649146.1:n.2216G>T
ENST00000649607.1:c.3157G>T
ENST00000649775.1:c.1462G>T
ENST00000650226.1:c.4973G>T	ENSP00000496981.1:p.Arg1658Ile
ENST00000281928.7:c.4973G>T	ENSP00000281928.3:p.Arg1658Ile
ENST00000549786.1:c.337G>T
ENST00000552340.1:c.5G>T	ENSP00000449876.1:p.Arg2Ile
NM_015335.4:c.4973G>T	NP_056150.1:p.Arg1658Ile
XM_011538080.1:c.4973G>T	XP_011536382.1:p.Arg1658Ile
XM_011538081.1:c.4970G>T	XP_011536383.1:p.Arg1657Ile
XM_011538082.1:c.4943G>T	XP_011536384.1:p.Arg1648Ile
XM_011538080.2:c.4973G>T	XP_011536382.1:p.Arg1658Ile
XM_011538081.2:c.4970G>T	XP_011536383.1:p.Arg1657Ile
XM_011538082.2:c.4943G>T	XP_011536384.1:p.Arg1648Ile
XM_017019090.1:c.4970G>T	XP_016874579.1:p.Arg1657Ile
NM_015335.5:c.4973G>T MANE Select	NP_056150.1:p.Arg1658Ile