Canonical Allele Identifier: CA386881312

Gene: MED13L

Linked Data

• ClinVar Variation Id: 3124932
• ClinVar RCV Id: RCV004421789
• dbSNP Id: rs1877399404
• MyVariant Identifiers: chr12:g.116420335C>A (hg19) ; chr12:g.115982530C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115982530C>A , CM000674.2:g.115982530C>A	GRCh38
NC_000012.11:g.116420335C>A , CM000674.1:g.116420335C>A	GRCh37
NC_000012.10:g.114904718C>A	NCBI36
NG_023366.1:g.299657G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5029G>T MANE Select	ENSP00000281928.3:p.Val1677Phe
ENST00000549786.2:c.4457G>T
ENST00000648379.1:n.3397G>T
ENST00000648737.1:n.4793G>T
ENST00000648825.1:n.1769G>T
ENST00000648916.1:n.3040G>T
ENST00000649146.1:n.2272G>T
ENST00000649607.1:c.3213G>T
ENST00000649775.1:c.1518G>T
ENST00000650226.1:c.5029G>T	ENSP00000496981.1:p.Val1677Phe
ENST00000281928.7:c.5029G>T	ENSP00000281928.3:p.Val1677Phe
ENST00000549786.1:c.393G>T
ENST00000552340.1:c.61G>T	ENSP00000449876.1:p.Val21Phe
NM_015335.4:c.5029G>T	NP_056150.1:p.Val1677Phe
XM_011538080.1:c.5029G>T	XP_011536382.1:p.Val1677Phe
XM_011538081.1:c.5026G>T	XP_011536383.1:p.Val1676Phe
XM_011538082.1:c.4999G>T	XP_011536384.1:p.Val1667Phe
XM_011538080.2:c.5029G>T	XP_011536382.1:p.Val1677Phe
XM_011538081.2:c.5026G>T	XP_011536383.1:p.Val1676Phe
XM_011538082.2:c.4999G>T	XP_011536384.1:p.Val1667Phe
XM_017019090.1:c.5026G>T	XP_016874579.1:p.Val1676Phe
NM_015335.5:c.5029G>T MANE Select	NP_056150.1:p.Val1677Phe