Canonical Allele Identifier: CA386878595

Gene: MED13L

Linked Data

• gnomAD v4: 12-115975282-T-G
• MyVariant Identifiers: chr12:g.116413087T>G (hg19) ; chr12:g.115975282T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115975282T>G , CM000674.2:g.115975282T>G	GRCh38
NC_000012.11:g.116413087T>G , CM000674.1:g.116413087T>G	GRCh37
NC_000012.10:g.114897470T>G	NCBI36
NG_023366.1:g.306905A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5620A>C MANE Select	ENSP00000281928.3:p.Ile1874Leu
ENST00000548694.2:n.610A>C
ENST00000648379.1:n.3988A>C
ENST00000648737.1:n.5384A>C
ENST00000648825.1:n.3805A>C
ENST00000648916.1:n.3631A>C
ENST00000649607.1:c.3804A>C
ENST00000649775.1:c.2109A>C
ENST00000650226.1:c.5656A>C	ENSP00000496981.1:p.Ile1886Leu
ENST00000281928.7:c.5620A>C	ENSP00000281928.3:p.Ile1874Leu
ENST00000548694.1:n.610A>C
ENST00000552447.1:c.233A>C
NM_015335.4:c.5620A>C	NP_056150.1:p.Ile1874Leu
XM_011538080.1:c.5656A>C	XP_011536382.1:p.Ile1886Leu
XM_011538081.1:c.5653A>C	XP_011536383.1:p.Ile1885Leu
XM_011538082.1:c.5626A>C	XP_011536384.1:p.Ile1876Leu
XM_011538080.2:c.5656A>C	XP_011536382.1:p.Ile1886Leu
XM_011538081.2:c.5653A>C	XP_011536383.1:p.Ile1885Leu
XM_011538082.2:c.5626A>C	XP_011536384.1:p.Ile1876Leu
XM_017019090.1:c.5617A>C	XP_016874579.1:p.Ile1873Leu
NM_015335.5:c.5620A>C MANE Select	NP_056150.1:p.Ile1874Leu