Canonical Allele Identifier: CA386927646

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116675473A>C (hg19) ; chr12:g.116237668A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.116237668A>C , CM000674.2:g.116237668A>C	GRCh38
NC_000012.11:g.116675473A>C , CM000674.1:g.116675473A>C	GRCh37
NC_000012.10:g.115159856A>C	NCBI36
NG_023366.1:g.44519T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.110T>G MANE Select	ENSP00000281928.3:p.Phe37Cys
ENST00000548743.2:c.80T>G	ENSP00000448553.2:p.Phe27Cys
ENST00000551197.2:c.60T>G
ENST00000647567.1:c.20T>G	ENSP00000497136.1:p.Phe7Cys
ENST00000650226.1:c.110T>G	ENSP00000496981.1:p.Phe37Cys
ENST00000650375.1:n.272T>G
ENST00000281928.7:c.110T>G	ENSP00000281928.3:p.Phe37Cys
ENST00000548743.1:c.80T>G	ENSP00000448553.1:p.Phe27Cys
ENST00000551197.1:n.60T>G
NM_015335.4:c.110T>G	NP_056150.1:p.Phe37Cys
XM_011538080.1:c.110T>G	XP_011536382.1:p.Phe37Cys
XM_011538081.1:c.110T>G	XP_011536383.1:p.Phe37Cys
XM_011538082.1:c.80T>G	XP_011536384.1:p.Phe27Cys
XM_011538080.2:c.110T>G	XP_011536382.1:p.Phe37Cys
XM_011538081.2:c.110T>G	XP_011536383.1:p.Phe37Cys
XM_011538082.2:c.80T>G	XP_011536384.1:p.Phe27Cys
XM_017019090.1:c.110T>G	XP_016874579.1:p.Phe37Cys
NM_015335.5:c.110T>G MANE Select	NP_056150.1:p.Phe37Cys