Canonical Allele Identifier: CA386872155

Gene: MED13L

Linked Data

• ClinVar Variation Id: 835348
• ClinVar RCV Id: RCV001036208
• dbSNP Id: rs1880117720
• MyVariant Identifiers: chr12:g.116460283C>A (hg19) ; chr12:g.116022478C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.116022478C>A , CM000674.2:g.116022478C>A	GRCh38
NC_000012.11:g.116460283C>A , CM000674.1:g.116460283C>A	GRCh37
NC_000012.10:g.114944666C>A	NCBI36
NG_023366.1:g.259709G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.603G>T MANE Select	ENSP00000281928.3:p.Gln201His
ENST00000548743.2:c.573G>T	ENSP00000448553.2:p.Gln191His
ENST00000549786.2:c.31G>T
ENST00000647567.1:c.513G>T	ENSP00000497136.1:p.Gln171His
ENST00000648737.1:n.367G>T
ENST00000650226.1:c.603G>T	ENSP00000496981.1:p.Gln201His
ENST00000281928.7:c.603G>T	ENSP00000281928.3:p.Gln201His
NM_015335.4:c.603G>T	NP_056150.1:p.Gln201His
XM_011538080.1:c.603G>T	XP_011536382.1:p.Gln201His
XM_011538081.1:c.603G>T	XP_011536383.1:p.Gln201His
XM_011538082.1:c.573G>T	XP_011536384.1:p.Gln191His
XM_011538080.2:c.603G>T	XP_011536382.1:p.Gln201His
XM_011538081.2:c.603G>T	XP_011536383.1:p.Gln201His
XM_011538082.2:c.573G>T	XP_011536384.1:p.Gln191His
XM_017019090.1:c.603G>T	XP_016874579.1:p.Gln201His
NM_015335.5:c.603G>T MANE Select	NP_056150.1:p.Gln201His