Canonical Allele Identifier: CA481946695

Gene: MED13L

Linked Data

• gnomAD v4: 12-115982561-G-A
• MyVariant Identifiers: chr12:g.116420366G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115982561G>A , CM000674.2:g.115982561G>A	GRCh38
NC_000012.11:g.116420366G>A , CM000674.1:g.116420366G>A	GRCh37
NC_000012.10:g.114904749G>A	NCBI36
NG_023366.1:g.299626C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.4998C>T MANE Select	ENSP00000281928.3:p.Asp1666=
ENST00000549786.2:c.4426C>T
ENST00000648379.1:n.3366C>T
ENST00000648737.1:n.4762C>T
ENST00000648825.1:n.1738C>T
ENST00000648916.1:n.3009C>T
ENST00000649146.1:n.2241C>T
ENST00000649607.1:c.3182C>T
ENST00000649775.1:c.1487C>T
ENST00000650226.1:c.4998C>T	ENSP00000496981.1:p.Asp1666=
ENST00000281928.7:c.4998C>T	ENSP00000281928.3:p.Asp1666=
ENST00000549786.1:c.362C>T
ENST00000552340.1:c.30C>T	ENSP00000449876.1:p.Asp10=
NM_015335.4:c.4998C>T	NP_056150.1:p.Asp1666=
XM_011538080.1:c.4998C>T	XP_011536382.1:p.Asp1666=
XM_011538081.1:c.4995C>T	XP_011536383.1:p.Asp1665=
XM_011538082.1:c.4968C>T	XP_011536384.1:p.Asp1656=
XM_011538080.2:c.4998C>T	XP_011536382.1:p.Asp1666=
XM_011538081.2:c.4995C>T	XP_011536383.1:p.Asp1665=
XM_011538082.2:c.4968C>T	XP_011536384.1:p.Asp1656=
XM_017019090.1:c.4995C>T	XP_016874579.1:p.Asp1665=
NM_015335.5:c.4998C>T MANE Select	NP_056150.1:p.Asp1666=