Canonical Allele Identifier: CA386898353

Gene: MED13L

Linked Data

• ClinVar Variation Id: 1328706
• ClinVar RCV Id: RCV001797338
• dbSNP Id: rs1879500574
• MyVariant Identifiers: chr12:g.116450687G>A (hg19) ; chr12:g.116012882G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.116012882G>A , CM000674.2:g.116012882G>A	GRCh38
NC_000012.11:g.116450687G>A , CM000674.1:g.116450687G>A	GRCh37
NC_000012.10:g.114935070G>A	NCBI36
NG_023366.1:g.269305C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.1195C>T MANE Select	ENSP00000281928.3:p.Pro399Ser
ENST00000548743.2:c.1165C>T	ENSP00000448553.2:p.Pro389Ser
ENST00000549786.2:c.623C>T
ENST00000647567.1:c.1102C>T	ENSP00000497136.1:p.Pro368Ser
ENST00000648737.1:n.959C>T
ENST00000650226.1:c.1195C>T	ENSP00000496981.1:p.Pro399Ser
ENST00000281928.7:c.1195C>T	ENSP00000281928.3:p.Pro399Ser
NM_015335.4:c.1195C>T	NP_056150.1:p.Pro399Ser
XM_011538080.1:c.1195C>T	XP_011536382.1:p.Pro399Ser
XM_011538081.1:c.1195C>T	XP_011536383.1:p.Pro399Ser
XM_011538082.1:c.1165C>T	XP_011536384.1:p.Pro389Ser
XM_011538080.2:c.1195C>T	XP_011536382.1:p.Pro399Ser
XM_011538081.2:c.1195C>T	XP_011536383.1:p.Pro399Ser
XM_011538082.2:c.1165C>T	XP_011536384.1:p.Pro389Ser
XM_017019090.1:c.1195C>T	XP_016874579.1:p.Pro399Ser
NM_015335.5:c.1195C>T MANE Select	NP_056150.1:p.Pro399Ser