Canonical Allele Identifier: CA386882335

Gene: MED13L

Linked Data

• gnomAD v4: 12-115982601-A-G
• MyVariant Identifiers: chr12:g.116420406A>G (hg19) ; chr12:g.115982601A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115982601A>G , CM000674.2:g.115982601A>G	GRCh38
NC_000012.11:g.116420406A>G , CM000674.1:g.116420406A>G	GRCh37
NC_000012.10:g.114904789A>G	NCBI36
NG_023366.1:g.299586T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.4958T>C MANE Select	ENSP00000281928.3:p.Val1653Ala
ENST00000549786.2:c.4386T>C
ENST00000648379.1:n.3326T>C
ENST00000648737.1:n.4722T>C
ENST00000648825.1:n.1698T>C
ENST00000648916.1:n.2969T>C
ENST00000649146.1:n.2201T>C
ENST00000649607.1:c.3142T>C
ENST00000649775.1:c.1453-6T>C
ENST00000650226.1:c.4958T>C	ENSP00000496981.1:p.Val1653Ala
ENST00000281928.7:c.4958T>C	ENSP00000281928.3:p.Val1653Ala
ENST00000549786.1:c.322T>C
NM_015335.4:c.4958T>C	NP_056150.1:p.Val1653Ala
XM_011538080.1:c.4958T>C	XP_011536382.1:p.Val1653Ala
XM_011538081.1:c.4955T>C	XP_011536383.1:p.Val1652Ala
XM_011538082.1:c.4928T>C	XP_011536384.1:p.Val1643Ala
XM_011538080.2:c.4958T>C	XP_011536382.1:p.Val1653Ala
XM_011538081.2:c.4955T>C	XP_011536383.1:p.Val1652Ala
XM_011538082.2:c.4928T>C	XP_011536384.1:p.Val1643Ala
XM_017019090.1:c.4955T>C	XP_016874579.1:p.Val1652Ala
NM_015335.5:c.4958T>C MANE Select	NP_056150.1:p.Val1653Ala