Canonical Allele Identifier: CA386881034

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116420214T>C (hg19) ; chr12:g.115982409T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115982409T>C , CM000674.2:g.115982409T>C	GRCh38
NC_000012.11:g.116420214T>C , CM000674.1:g.116420214T>C	GRCh37
NC_000012.10:g.114904597T>C	NCBI36
NG_023366.1:g.299778A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5150A>G MANE Select	ENSP00000281928.3:p.His1717Arg
ENST00000549786.2:c.4578A>G
ENST00000648379.1:n.3518A>G
ENST00000648737.1:n.4914A>G
ENST00000648825.1:n.1890A>G
ENST00000648916.1:n.3161A>G
ENST00000649146.1:n.2393A>G
ENST00000649607.1:c.3334A>G
ENST00000649775.1:c.1639A>G
ENST00000650226.1:c.5150A>G	ENSP00000496981.1:p.His1717Arg
ENST00000281928.7:c.5150A>G	ENSP00000281928.3:p.His1717Arg
ENST00000549786.1:c.514A>G
ENST00000552340.1:c.182A>G	ENSP00000449876.1:p.His61Arg
NM_015335.4:c.5150A>G	NP_056150.1:p.His1717Arg
XM_011538080.1:c.5150A>G	XP_011536382.1:p.His1717Arg
XM_011538081.1:c.5147A>G	XP_011536383.1:p.His1716Arg
XM_011538082.1:c.5120A>G	XP_011536384.1:p.His1707Arg
XM_011538080.2:c.5150A>G	XP_011536382.1:p.His1717Arg
XM_011538081.2:c.5147A>G	XP_011536383.1:p.His1716Arg
XM_011538082.2:c.5120A>G	XP_011536384.1:p.His1707Arg
XM_017019090.1:c.5147A>G	XP_016874579.1:p.His1716Arg
NM_015335.5:c.5150A>G MANE Select	NP_056150.1:p.His1717Arg