Canonical Allele Identifier: CA386878650

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116413099A>C (hg19) ; chr12:g.115975294A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115975294A>C , CM000674.2:g.115975294A>C	GRCh38
NC_000012.11:g.116413099A>C , CM000674.1:g.116413099A>C	GRCh37
NC_000012.10:g.114897482A>C	NCBI36
NG_023366.1:g.306893T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5608T>G MANE Select	ENSP00000281928.3:p.Ser1870Ala
ENST00000548694.2:n.598T>G
ENST00000648379.1:n.3976T>G
ENST00000648737.1:n.5372T>G
ENST00000648825.1:n.3793T>G
ENST00000648916.1:n.3619T>G
ENST00000649607.1:c.3792T>G
ENST00000649775.1:c.2097T>G
ENST00000650226.1:c.5644T>G	ENSP00000496981.1:p.Ser1882Ala
ENST00000281928.7:c.5608T>G	ENSP00000281928.3:p.Ser1870Ala
ENST00000548694.1:n.598T>G
ENST00000552447.1:c.221T>G
NM_015335.4:c.5608T>G	NP_056150.1:p.Ser1870Ala
XM_011538080.1:c.5644T>G	XP_011536382.1:p.Ser1882Ala
XM_011538081.1:c.5641T>G	XP_011536383.1:p.Ser1881Ala
XM_011538082.1:c.5614T>G	XP_011536384.1:p.Ser1872Ala
XM_011538080.2:c.5644T>G	XP_011536382.1:p.Ser1882Ala
XM_011538081.2:c.5641T>G	XP_011536383.1:p.Ser1881Ala
XM_011538082.2:c.5614T>G	XP_011536384.1:p.Ser1872Ala
XM_017019090.1:c.5605T>G	XP_016874579.1:p.Ser1869Ala
NM_015335.5:c.5608T>G MANE Select	NP_056150.1:p.Ser1870Ala