Canonical Allele Identifier: CA386878727

Gene: MED13L

Linked Data

• dbSNP Id: rs1481067275
• gnomAD v2: 12-116413114-G-A
• gnomAD v4: 12-115975309-G-A
• MyVariant Identifiers: chr12:g.116413114G>A (hg19) ; chr12:g.115975309G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115975309G>A , CM000674.2:g.115975309G>A	GRCh38
NC_000012.11:g.116413114G>A , CM000674.1:g.116413114G>A	GRCh37
NC_000012.10:g.114897497G>A	NCBI36
NG_023366.1:g.306878C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5593C>T MANE Select	ENSP00000281928.3:p.Arg1865Trp
ENST00000548694.2:n.583C>T
ENST00000648379.1:n.3961C>T
ENST00000648737.1:n.5357C>T
ENST00000648825.1:n.3778C>T
ENST00000648916.1:n.3604C>T
ENST00000649607.1:c.3777C>T
ENST00000649775.1:c.2082C>T
ENST00000650226.1:c.5629C>T	ENSP00000496981.1:p.Arg1877Trp
ENST00000281928.7:c.5593C>T	ENSP00000281928.3:p.Arg1865Trp
ENST00000548694.1:n.583C>T
ENST00000552447.1:c.206C>T
NM_015335.4:c.5593C>T	NP_056150.1:p.Arg1865Trp
XM_011538080.1:c.5629C>T	XP_011536382.1:p.Arg1877Trp
XM_011538081.1:c.5626C>T	XP_011536383.1:p.Arg1876Trp
XM_011538082.1:c.5599C>T	XP_011536384.1:p.Arg1867Trp
XM_011538080.2:c.5629C>T	XP_011536382.1:p.Arg1877Trp
XM_011538081.2:c.5626C>T	XP_011536383.1:p.Arg1876Trp
XM_011538082.2:c.5599C>T	XP_011536384.1:p.Arg1867Trp
XM_017019090.1:c.5590C>T	XP_016874579.1:p.Arg1864Trp
NM_015335.5:c.5593C>T MANE Select	NP_056150.1:p.Arg1865Trp