Canonical Allele Identifier: CA386878661

Gene: MED13L

Linked Data

• dbSNP Id: rs1216137920
• gnomAD v2: 12-116413102-C-T
• gnomAD v4: 12-115975297-C-T
• MyVariant Identifiers: chr12:g.116413102C>T (hg19) ; chr12:g.115975297C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115975297C>T , CM000674.2:g.115975297C>T	GRCh38
NC_000012.11:g.116413102C>T , CM000674.1:g.116413102C>T	GRCh37
NC_000012.10:g.114897485C>T	NCBI36
NG_023366.1:g.306890G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000281928.9:c.5605G>A MANE Select	ENSP00000281928.3:p.Val1869Ile
ENST00000548694.2:n.595G>A
ENST00000648379.1:n.3973G>A
ENST00000648737.1:n.5369G>A
ENST00000648825.1:n.3790G>A
ENST00000648916.1:n.3616G>A
ENST00000649607.1:c.3789G>A
ENST00000649775.1:c.2094G>A
ENST00000650226.1:c.5641G>A	ENSP00000496981.1:p.Val1881Ile
ENST00000281928.7:c.5605G>A	ENSP00000281928.3:p.Val1869Ile
ENST00000548694.1:n.595G>A
ENST00000552447.1:c.218G>A
NM_015335.4:c.5605G>A	NP_056150.1:p.Val1869Ile
XM_011538080.1:c.5641G>A	XP_011536382.1:p.Val1881Ile
XM_011538081.1:c.5638G>A	XP_011536383.1:p.Val1880Ile
XM_011538082.1:c.5611G>A	XP_011536384.1:p.Val1871Ile
XM_011538080.2:c.5641G>A	XP_011536382.1:p.Val1881Ile
XM_011538081.2:c.5638G>A	XP_011536383.1:p.Val1880Ile
XM_011538082.2:c.5611G>A	XP_011536384.1:p.Val1871Ile
XM_017019090.1:c.5602G>A	XP_016874579.1:p.Val1868Ile
NM_015335.5:c.5605G>A MANE Select	NP_056150.1:p.Val1869Ile