Canonical Allele Identifier: CA481946462

Gene: MED13L

Linked Data

• gnomAD v4: 12-115982513-C-A
• MyVariant Identifiers: chr12:g.116420318C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115982513C>A , CM000674.2:g.115982513C>A	GRCh38
NC_000012.11:g.116420318C>A , CM000674.1:g.116420318C>A	GRCh37
NC_000012.10:g.114904701C>A	NCBI36
NG_023366.1:g.299674G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000281928.9:c.5046G>T MANE Select	ENSP00000281928.3:p.Val1682=
ENST00000549786.2:c.4474G>T
ENST00000648379.1:n.3414G>T
ENST00000648737.1:n.4810G>T
ENST00000648825.1:n.1786G>T
ENST00000648916.1:n.3057G>T
ENST00000649146.1:n.2289G>T
ENST00000649607.1:c.3230G>T
ENST00000649775.1:c.1535G>T
ENST00000650226.1:c.5046G>T	ENSP00000496981.1:p.Val1682=
ENST00000281928.7:c.5046G>T	ENSP00000281928.3:p.Val1682=
ENST00000549786.1:c.410G>T
ENST00000552340.1:c.78G>T	ENSP00000449876.1:p.Val26=
NM_015335.4:c.5046G>T	NP_056150.1:p.Val1682=
XM_011538080.1:c.5046G>T	XP_011536382.1:p.Val1682=
XM_011538081.1:c.5043G>T	XP_011536383.1:p.Val1681=
XM_011538082.1:c.5016G>T	XP_011536384.1:p.Val1672=
XM_011538080.2:c.5046G>T	XP_011536382.1:p.Val1682=
XM_011538081.2:c.5043G>T	XP_011536383.1:p.Val1681=
XM_011538082.2:c.5016G>T	XP_011536384.1:p.Val1672=
XM_017019090.1:c.5043G>T	XP_016874579.1:p.Val1681=
NM_015335.5:c.5046G>T MANE Select	NP_056150.1:p.Val1682=