Canonical Allele Identifier: CA386872179

Gene: MED13L

Linked Data

• ClinVar Variation Id: 1490441
• ClinVar RCV Id: RCV001983739
• dbSNP Id: rs764593997
• MyVariant Identifiers: chr12:g.116460293T>G (hg19) ; chr12:g.116022488T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.116022488T>G , CM000674.2:g.116022488T>G	GRCh38
NC_000012.11:g.116460293T>G , CM000674.1:g.116460293T>G	GRCh37
NC_000012.10:g.114944676T>G	NCBI36
NG_023366.1:g.259699A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.593A>C MANE Select	ENSP00000281928.3:p.His198Pro
ENST00000548743.2:c.563A>C	ENSP00000448553.2:p.His188Pro
ENST00000549786.2:c.21A>C
ENST00000647567.1:c.503A>C	ENSP00000497136.1:p.His168Pro
ENST00000648737.1:n.357A>C
ENST00000650226.1:c.593A>C	ENSP00000496981.1:p.His198Pro
ENST00000281928.7:c.593A>C	ENSP00000281928.3:p.His198Pro
NM_015335.4:c.593A>C	NP_056150.1:p.His198Pro
XM_011538080.1:c.593A>C	XP_011536382.1:p.His198Pro
XM_011538081.1:c.593A>C	XP_011536383.1:p.His198Pro
XM_011538082.1:c.563A>C	XP_011536384.1:p.His188Pro
XM_011538080.2:c.593A>C	XP_011536382.1:p.His198Pro
XM_011538081.2:c.593A>C	XP_011536383.1:p.His198Pro
XM_011538082.2:c.563A>C	XP_011536384.1:p.His188Pro
XM_017019090.1:c.593A>C	XP_016874579.1:p.His198Pro
NM_015335.5:c.593A>C MANE Select	NP_056150.1:p.His198Pro