Canonical Allele Identifier: CA386881117

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116420248A>C (hg19) ; chr12:g.115982443A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115982443A>C , CM000674.2:g.115982443A>C	GRCh38
NC_000012.11:g.116420248A>C , CM000674.1:g.116420248A>C	GRCh37
NC_000012.10:g.114904631A>C	NCBI36
NG_023366.1:g.299744T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5116T>G MANE Select	ENSP00000281928.3:p.Cys1706Gly
ENST00000549786.2:c.4544T>G
ENST00000648379.1:n.3484T>G
ENST00000648737.1:n.4880T>G
ENST00000648825.1:n.1856T>G
ENST00000648916.1:n.3127T>G
ENST00000649146.1:n.2359T>G
ENST00000649607.1:c.3300T>G
ENST00000649775.1:c.1605T>G
ENST00000650226.1:c.5116T>G	ENSP00000496981.1:p.Cys1706Gly
ENST00000281928.7:c.5116T>G	ENSP00000281928.3:p.Cys1706Gly
ENST00000549786.1:c.480T>G
ENST00000552340.1:c.148T>G	ENSP00000449876.1:p.Cys50Gly
NM_015335.4:c.5116T>G	NP_056150.1:p.Cys1706Gly
XM_011538080.1:c.5116T>G	XP_011536382.1:p.Cys1706Gly
XM_011538081.1:c.5113T>G	XP_011536383.1:p.Cys1705Gly
XM_011538082.1:c.5086T>G	XP_011536384.1:p.Cys1696Gly
XM_011538080.2:c.5116T>G	XP_011536382.1:p.Cys1706Gly
XM_011538081.2:c.5113T>G	XP_011536383.1:p.Cys1705Gly
XM_011538082.2:c.5086T>G	XP_011536384.1:p.Cys1696Gly
XM_017019090.1:c.5113T>G	XP_016874579.1:p.Cys1705Gly
NM_015335.5:c.5116T>G MANE Select	NP_056150.1:p.Cys1706Gly