Canonical Allele Identifier: CA386882299

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116420397C>T (hg19) ; chr12:g.115982592C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115982592C>T , CM000674.2:g.115982592C>T	GRCh38
NC_000012.11:g.116420397C>T , CM000674.1:g.116420397C>T	GRCh37
NC_000012.10:g.114904780C>T	NCBI36
NG_023366.1:g.299595G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.4967G>A MANE Select	ENSP00000281928.3:p.Arg1656Lys
ENST00000549786.2:c.4395G>A
ENST00000648379.1:n.3335G>A
ENST00000648737.1:n.4731G>A
ENST00000648825.1:n.1707G>A
ENST00000648916.1:n.2978G>A
ENST00000649146.1:n.2210G>A
ENST00000649607.1:c.3151G>A
ENST00000649775.1:c.1456G>A
ENST00000650226.1:c.4967G>A	ENSP00000496981.1:p.Arg1656Lys
ENST00000281928.7:c.4967G>A	ENSP00000281928.3:p.Arg1656Lys
ENST00000549786.1:c.331G>A
NM_015335.4:c.4967G>A	NP_056150.1:p.Arg1656Lys
XM_011538080.1:c.4967G>A	XP_011536382.1:p.Arg1656Lys
XM_011538081.1:c.4964G>A	XP_011536383.1:p.Arg1655Lys
XM_011538082.1:c.4937G>A	XP_011536384.1:p.Arg1646Lys
XM_011538080.2:c.4967G>A	XP_011536382.1:p.Arg1656Lys
XM_011538081.2:c.4964G>A	XP_011536383.1:p.Arg1655Lys
XM_011538082.2:c.4937G>A	XP_011536384.1:p.Arg1646Lys
XM_017019090.1:c.4964G>A	XP_016874579.1:p.Arg1655Lys
NM_015335.5:c.4967G>A MANE Select	NP_056150.1:p.Arg1656Lys