Canonical Allele Identifier: CA386883821

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116422159G>T (hg19) ; chr12:g.115984354G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115984354G>T , CM000674.2:g.115984354G>T	GRCh38
NC_000012.11:g.116422159G>T , CM000674.1:g.116422159G>T	GRCh37
NC_000012.10:g.114906542G>T	NCBI36
NG_023366.1:g.297833C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.4357C>A MANE Select	ENSP00000281928.3:p.His1453Asn
ENST00000549786.2:c.3785C>A
ENST00000648379.1:n.2725C>A
ENST00000648737.1:n.4121C>A
ENST00000648825.1:n.1097C>A
ENST00000648916.1:n.2368C>A
ENST00000649146.1:n.1087C>A
ENST00000649607.1:c.2541C>A
ENST00000649775.1:c.854C>A
ENST00000650091.1:n.2333C>A
ENST00000650226.1:c.4357C>A	ENSP00000496981.1:p.His1453Asn
ENST00000281928.7:c.4357C>A	ENSP00000281928.3:p.His1453Asn
NM_015335.4:c.4357C>A	NP_056150.1:p.His1453Asn
XM_011538080.1:c.4357C>A	XP_011536382.1:p.His1453Asn
XM_011538081.1:c.4354C>A	XP_011536383.1:p.His1452Asn
XM_011538082.1:c.4327C>A	XP_011536384.1:p.His1443Asn
XM_011538080.2:c.4357C>A	XP_011536382.1:p.His1453Asn
XM_011538081.2:c.4354C>A	XP_011536383.1:p.His1452Asn
XM_011538082.2:c.4327C>A	XP_011536384.1:p.His1443Asn
XM_017019090.1:c.4354C>A	XP_016874579.1:p.His1452Asn
NM_015335.5:c.4357C>A MANE Select	NP_056150.1:p.His1453Asn