Canonical Allele Identifier: CA386871746

Gene: MED13L

Linked Data

• ClinVar Variation Id: 545095
• ClinVar RCV Id: RCV000656314
• dbSNP Id: rs1555249664
• MyVariant Identifiers: chr12:g.116457779T>C (hg19) ; chr12:g.116019974T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.116019974T>C , CM000674.2:g.116019974T>C	GRCh38
NC_000012.11:g.116457779T>C , CM000674.1:g.116457779T>C	GRCh37
NC_000012.10:g.114942162T>C	NCBI36
NG_023366.1:g.262213A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.626-2A>G MANE Select	ENSP00000281928.3:n.626-2A>G
ENST00000548743.2:c.596-2A>G	ENSP00000448553.2:n.596-2A>G
ENST00000549786.2:c.54-2A>G
ENST00000647567.1:c.536-2A>G	ENSP00000497136.1:n.536-2A>G
ENST00000648737.1:n.390-2A>G
ENST00000650226.1:c.626-2A>G	ENSP00000496981.1:n.626-2A>G
ENST00000281928.7:c.626-2A>G	ENSP00000281928.3:n.626-2A>G
NM_015335.4:c.626-2A>G	NP_056150.1:n.626-2A>G
XM_011538080.1:c.626-2A>G	XP_011536382.1:n.626-2A>G
XM_011538081.1:c.626-2A>G	XP_011536383.1:n.626-2A>G
XM_011538082.1:c.596-2A>G	XP_011536384.1:n.596-2A>G
XM_011538080.2:c.626-2A>G	XP_011536382.1:n.626-2A>G
XM_011538081.2:c.626-2A>G	XP_011536383.1:n.626-2A>G
XM_011538082.2:c.596-2A>G	XP_011536384.1:n.596-2A>G
XM_017019090.1:c.626-2A>G	XP_016874579.1:n.626-2A>G
NM_015335.5:c.626-2A>G MANE Select	NP_056150.1:n.626-2A>G