Canonical Allele Identifier: CA6811147

Gene: MED13L

Linked Data

• dbSNP Id: rs763261961
• ExAC: 12:116440904 C / T
• gnomAD v2: 12-116440904-C-T
• gnomAD v4: 12-116003099-C-T
• MyVariant Identifiers: chr12:g.116440904C>T (hg19) ; chr12:g.116003099C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.116003099C>T , CM000674.2:g.116003099C>T	GRCh38
NC_000012.11:g.116440904C>T , CM000674.1:g.116440904C>T	GRCh37
NC_000012.10:g.114925287C>T	NCBI36
NG_023366.1:g.279088G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.2473G>A MANE Select	ENSP00000281928.3:p.Val825Ile
ENST00000548743.2:c.2443G>A	ENSP00000448553.2:p.Val815Ile
ENST00000549786.2:c.1901G>A
ENST00000648173.1:n.1268G>A
ENST00000648379.1:n.841G>A
ENST00000648737.1:n.2237G>A
ENST00000648916.1:n.484G>A
ENST00000649607.1:c.660G>A
ENST00000650226.1:c.2473G>A	ENSP00000496981.1:p.Val825Ile
ENST00000281928.7:c.2473G>A	ENSP00000281928.3:p.Val825Ile
NM_015335.4:c.2473G>A	NP_056150.1:p.Val825Ile
XM_011538080.1:c.2473G>A	XP_011536382.1:p.Val825Ile
XM_011538081.1:c.2473G>A	XP_011536383.1:p.Val825Ile
XM_011538082.1:c.2443G>A	XP_011536384.1:p.Val815Ile
XM_011538080.2:c.2473G>A	XP_011536382.1:p.Val825Ile
XM_011538081.2:c.2473G>A	XP_011536383.1:p.Val825Ile
XM_011538082.2:c.2443G>A	XP_011536384.1:p.Val815Ile
XM_017019090.1:c.2473G>A	XP_016874579.1:p.Val825Ile
NM_015335.5:c.2473G>A MANE Select	NP_056150.1:p.Val825Ile