Canonical Allele Identifier: CA386894666

Gene: MED13L

Linked Data

• ClinVar Variation Id: 433184
• ClinVar RCV Id: RCV000498077
• dbSNP Id: rs1555247699
• MyVariant Identifiers: chr12:g.116445395G>A (hg19) ; chr12:g.116007590G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.116007590G>A , CM000674.2:g.116007590G>A	GRCh38
NC_000012.11:g.116445395G>A , CM000674.1:g.116445395G>A	GRCh37
NC_000012.10:g.114929778G>A	NCBI36
NG_023366.1:g.274597C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.2059C>T MANE Select	ENSP00000281928.3:p.Gln687Ter
ENST00000548743.2:c.2029C>T	ENSP00000448553.2:p.Gln677Ter
ENST00000549786.2:c.1487C>T
ENST00000648737.1:n.1823C>T
ENST00000649607.1:c.246C>T
ENST00000649655.1:n.662C>T
ENST00000649762.1:n.2619C>T
ENST00000650226.1:c.2059C>T	ENSP00000496981.1:p.Gln687Ter
ENST00000650443.1:n.76C>T
ENST00000281928.7:c.2059C>T	ENSP00000281928.3:p.Gln687Ter
ENST00000549755.1:n.1556C>T
NM_015335.4:c.2059C>T	NP_056150.1:p.Gln687Ter
XM_011538080.1:c.2059C>T	XP_011536382.1:p.Gln687Ter
XM_011538081.1:c.2059C>T	XP_011536383.1:p.Gln687Ter
XM_011538082.1:c.2029C>T	XP_011536384.1:p.Gln677Ter
XM_011538080.2:c.2059C>T	XP_011536382.1:p.Gln687Ter
XM_011538081.2:c.2059C>T	XP_011536383.1:p.Gln687Ter
XM_011538082.2:c.2029C>T	XP_011536384.1:p.Gln677Ter
XM_017019090.1:c.2059C>T	XP_016874579.1:p.Gln687Ter
NM_015335.5:c.2059C>T MANE Select	NP_056150.1:p.Gln687Ter