Canonical Allele Identifier: CA386874588

Gene: MED13L

Linked Data

• ClinVar Variation Id: 521253
• ClinVar RCV Id: RCV000623602
• dbSNP Id: rs1555240359
• MyVariant Identifiers: chr12:g.116403938C>T (hg19) ; chr12:g.115966133C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115966133C>T , CM000674.2:g.115966133C>T	GRCh38
NC_000012.11:g.116403938C>T , CM000674.1:g.116403938C>T	GRCh37
NC_000012.10:g.114888321C>T	NCBI36
NG_023366.1:g.316054G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000281928.9:c.6336G>A MANE Select	ENSP00000281928.3:p.Trp2112Ter
ENST00000548784.2:n.2550G>A
ENST00000648379.1:n.4704G>A
ENST00000648737.1:n.6100G>A
ENST00000648762.1:n.1026G>A
ENST00000648825.1:n.4521G>A
ENST00000648916.1:n.4347G>A
ENST00000649607.1:c.4520G>A
ENST00000649775.1:c.2667G>A
ENST00000650226.1:c.6372G>A	ENSP00000496981.1:p.Trp2124Ter
ENST00000281928.7:c.6336G>A	ENSP00000281928.3:p.Trp2112Ter
NM_015335.4:c.6336G>A	NP_056150.1:p.Trp2112Ter
XM_011538080.1:c.6372G>A	XP_011536382.1:p.Trp2124Ter
XM_011538081.1:c.6369G>A	XP_011536383.1:p.Trp2123Ter
XM_011538082.1:c.6342G>A	XP_011536384.1:p.Trp2114Ter
XM_011538080.2:c.6372G>A	XP_011536382.1:p.Trp2124Ter
XM_011538081.2:c.6369G>A	XP_011536383.1:p.Trp2123Ter
XM_011538082.2:c.6342G>A	XP_011536384.1:p.Trp2114Ter
XM_017019090.1:c.6333G>A	XP_016874579.1:p.Trp2111Ter
NM_015335.5:c.6336G>A MANE Select	NP_056150.1:p.Trp2112Ter