Canonical Allele Identifier: CA386880942

Gene: MED13L

Linked Data

• ClinVar Variation Id: 450904
• ClinVar RCV Id: RCV000522127
• dbSNP Id: rs1555243051
• MyVariant Identifiers: chr12:g.116420189C>A (hg19) ; chr12:g.115982384C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115982384C>A , CM000674.2:g.115982384C>A	GRCh38
NC_000012.11:g.116420189C>A , CM000674.1:g.116420189C>A	GRCh37
NC_000012.10:g.114904572C>A	NCBI36
NG_023366.1:g.299803G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5175G>T MANE Select	ENSP00000281928.3:p.Gln1725His
ENST00000549786.2:c.4603G>T
ENST00000648379.1:n.3543G>T
ENST00000648737.1:n.4939G>T
ENST00000648825.1:n.1915G>T
ENST00000648916.1:n.3186G>T
ENST00000649146.1:n.2418G>T
ENST00000649607.1:c.3359G>T
ENST00000649775.1:c.1664G>T
ENST00000650226.1:c.5175G>T	ENSP00000496981.1:p.Gln1725His
ENST00000281928.7:c.5175G>T	ENSP00000281928.3:p.Gln1725His
ENST00000549786.1:c.539G>T
ENST00000552340.1:c.207G>T	ENSP00000449876.1:p.Gln69His
NM_015335.4:c.5175G>T	NP_056150.1:p.Gln1725His
XM_011538080.1:c.5175G>T	XP_011536382.1:p.Gln1725His
XM_011538081.1:c.5172G>T	XP_011536383.1:p.Gln1724His
XM_011538082.1:c.5145G>T	XP_011536384.1:p.Gln1715His
XM_011538080.2:c.5175G>T	XP_011536382.1:p.Gln1725His
XM_011538081.2:c.5172G>T	XP_011536383.1:p.Gln1724His
XM_011538082.2:c.5145G>T	XP_011536384.1:p.Gln1715His
XM_017019090.1:c.5172G>T	XP_016874579.1:p.Gln1724His
NM_015335.5:c.5175G>T MANE Select	NP_056150.1:p.Gln1725His