Canonical Allele Identifier: CA386882246

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116420386C>T (hg19) ; chr12:g.115982581C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115982581C>T , CM000674.2:g.115982581C>T	GRCh38
NC_000012.11:g.116420386C>T , CM000674.1:g.116420386C>T	GRCh37
NC_000012.10:g.114904769C>T	NCBI36
NG_023366.1:g.299606G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.4978G>A MANE Select	ENSP00000281928.3:p.Gly1660Arg
ENST00000549786.2:c.4406G>A
ENST00000648379.1:n.3346G>A
ENST00000648737.1:n.4742G>A
ENST00000648825.1:n.1718G>A
ENST00000648916.1:n.2989G>A
ENST00000649146.1:n.2221G>A
ENST00000649607.1:c.3162G>A
ENST00000649775.1:c.1467G>A
ENST00000650226.1:c.4978G>A	ENSP00000496981.1:p.Gly1660Arg
ENST00000281928.7:c.4978G>A	ENSP00000281928.3:p.Gly1660Arg
ENST00000549786.1:c.342G>A
ENST00000552340.1:c.10G>A	ENSP00000449876.1:p.Gly4Arg
NM_015335.4:c.4978G>A	NP_056150.1:p.Gly1660Arg
XM_011538080.1:c.4978G>A	XP_011536382.1:p.Gly1660Arg
XM_011538081.1:c.4975G>A	XP_011536383.1:p.Gly1659Arg
XM_011538082.1:c.4948G>A	XP_011536384.1:p.Gly1650Arg
XM_011538080.2:c.4978G>A	XP_011536382.1:p.Gly1660Arg
XM_011538081.2:c.4975G>A	XP_011536383.1:p.Gly1659Arg
XM_011538082.2:c.4948G>A	XP_011536384.1:p.Gly1650Arg
XM_017019090.1:c.4975G>A	XP_016874579.1:p.Gly1659Arg
NM_015335.5:c.4978G>A MANE Select	NP_056150.1:p.Gly1660Arg