Canonical Allele Identifier: CA481944627

Gene: MED13L

Linked Data

• gnomAD v4: 12-115975190-A-T
• MyVariant Identifiers: chr12:g.116412995A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115975190A>T , CM000674.2:g.115975190A>T	GRCh38
NC_000012.11:g.116412995A>T , CM000674.1:g.116412995A>T	GRCh37
NC_000012.10:g.114897378A>T	NCBI36
NG_023366.1:g.306997T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5712T>A MANE Select	ENSP00000281928.3:p.Leu1904=
ENST00000548694.2:n.702T>A
ENST00000648379.1:n.4080T>A
ENST00000648737.1:n.5476T>A
ENST00000648825.1:n.3897T>A
ENST00000648916.1:n.3723T>A
ENST00000649607.1:c.3896T>A
ENST00000649775.1:c.2201T>A
ENST00000650226.1:c.5748T>A	ENSP00000496981.1:p.Leu1916=
ENST00000281928.7:c.5712T>A	ENSP00000281928.3:p.Leu1904=
ENST00000548694.1:n.702T>A
ENST00000552447.1:c.325T>A
NM_015335.4:c.5712T>A	NP_056150.1:p.Leu1904=
XM_011538080.1:c.5748T>A	XP_011536382.1:p.Leu1916=
XM_011538081.1:c.5745T>A	XP_011536383.1:p.Leu1915=
XM_011538082.1:c.5718T>A	XP_011536384.1:p.Leu1906=
XM_011538080.2:c.5748T>A	XP_011536382.1:p.Leu1916=
XM_011538081.2:c.5745T>A	XP_011536383.1:p.Leu1915=
XM_011538082.2:c.5718T>A	XP_011536384.1:p.Leu1906=
XM_017019090.1:c.5709T>A	XP_016874579.1:p.Leu1903=
NM_015335.5:c.5712T>A MANE Select	NP_056150.1:p.Leu1904=