Canonical Allele Identifier: CA386881207

Gene: MED13L

Linked Data

• gnomAD v4: 12-115982484-T-G
• MyVariant Identifiers: chr12:g.116420289T>G (hg19) ; chr12:g.115982484T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115982484T>G , CM000674.2:g.115982484T>G	GRCh38
NC_000012.11:g.116420289T>G , CM000674.1:g.116420289T>G	GRCh37
NC_000012.10:g.114904672T>G	NCBI36
NG_023366.1:g.299703A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5075A>C MANE Select	ENSP00000281928.3:p.Asp1692Ala
ENST00000549786.2:c.4503A>C
ENST00000648379.1:n.3443A>C
ENST00000648737.1:n.4839A>C
ENST00000648825.1:n.1815A>C
ENST00000648916.1:n.3086A>C
ENST00000649146.1:n.2318A>C
ENST00000649607.1:c.3259A>C
ENST00000649775.1:c.1564A>C
ENST00000650226.1:c.5075A>C	ENSP00000496981.1:p.Asp1692Ala
ENST00000281928.7:c.5075A>C	ENSP00000281928.3:p.Asp1692Ala
ENST00000549786.1:c.439A>C
ENST00000552340.1:c.107A>C	ENSP00000449876.1:p.Asp36Ala
NM_015335.4:c.5075A>C	NP_056150.1:p.Asp1692Ala
XM_011538080.1:c.5075A>C	XP_011536382.1:p.Asp1692Ala
XM_011538081.1:c.5072A>C	XP_011536383.1:p.Asp1691Ala
XM_011538082.1:c.5045A>C	XP_011536384.1:p.Asp1682Ala
XM_011538080.2:c.5075A>C	XP_011536382.1:p.Asp1692Ala
XM_011538081.2:c.5072A>C	XP_011536383.1:p.Asp1691Ala
XM_011538082.2:c.5045A>C	XP_011536384.1:p.Asp1682Ala
XM_017019090.1:c.5072A>C	XP_016874579.1:p.Asp1691Ala
NM_015335.5:c.5075A>C MANE Select	NP_056150.1:p.Asp1692Ala