Canonical Allele Identifier: CA386881350

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116420353G>T (hg19) ; chr12:g.115982548G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115982548G>T , CM000674.2:g.115982548G>T	GRCh38
NC_000012.11:g.116420353G>T , CM000674.1:g.116420353G>T	GRCh37
NC_000012.10:g.114904736G>T	NCBI36
NG_023366.1:g.299639C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5011C>A MANE Select	ENSP00000281928.3:p.His1671Asn
ENST00000549786.2:c.4439C>A
ENST00000648379.1:n.3379C>A
ENST00000648737.1:n.4775C>A
ENST00000648825.1:n.1751C>A
ENST00000648916.1:n.3022C>A
ENST00000649146.1:n.2254C>A
ENST00000649607.1:c.3195C>A
ENST00000649775.1:c.1500C>A
ENST00000650226.1:c.5011C>A	ENSP00000496981.1:p.His1671Asn
ENST00000281928.7:c.5011C>A	ENSP00000281928.3:p.His1671Asn
ENST00000549786.1:c.375C>A
ENST00000552340.1:c.43C>A	ENSP00000449876.1:p.His15Asn
NM_015335.4:c.5011C>A	NP_056150.1:p.His1671Asn
XM_011538080.1:c.5011C>A	XP_011536382.1:p.His1671Asn
XM_011538081.1:c.5008C>A	XP_011536383.1:p.His1670Asn
XM_011538082.1:c.4981C>A	XP_011536384.1:p.His1661Asn
XM_011538080.2:c.5011C>A	XP_011536382.1:p.His1671Asn
XM_011538081.2:c.5008C>A	XP_011536383.1:p.His1670Asn
XM_011538082.2:c.4981C>A	XP_011536384.1:p.His1661Asn
XM_017019090.1:c.5008C>A	XP_016874579.1:p.His1670Asn
NM_015335.5:c.5011C>A MANE Select	NP_056150.1:p.His1671Asn