Canonical Allele Identifier: CA386887516

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116429223A>C (hg19) ; chr12:g.115991418A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115991418A>C , CM000674.2:g.115991418A>C	GRCh38
NC_000012.11:g.116429223A>C , CM000674.1:g.116429223A>C	GRCh37
NC_000012.10:g.114913606A>C	NCBI36
NG_023366.1:g.290769T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.3536T>G MANE Select	ENSP00000281928.3:p.Phe1179Cys
ENST00000549786.2:c.2964T>G
ENST00000648379.1:n.1904T>G
ENST00000648737.1:n.3300T>G
ENST00000648825.1:n.276T>G
ENST00000648916.1:n.1547T>G
ENST00000649607.1:c.1720T>G
ENST00000649775.1:c.33T>G
ENST00000650226.1:c.3536T>G	ENSP00000496981.1:p.Phe1179Cys
ENST00000281928.7:c.3536T>G	ENSP00000281928.3:p.Phe1179Cys
NM_015335.4:c.3536T>G	NP_056150.1:p.Phe1179Cys
XM_011538080.1:c.3536T>G	XP_011536382.1:p.Phe1179Cys
XM_011538081.1:c.3533T>G	XP_011536383.1:p.Phe1178Cys
XM_011538082.1:c.3506T>G	XP_011536384.1:p.Phe1169Cys
XM_011538080.2:c.3536T>G	XP_011536382.1:p.Phe1179Cys
XM_011538081.2:c.3533T>G	XP_011536383.1:p.Phe1178Cys
XM_011538082.2:c.3506T>G	XP_011536384.1:p.Phe1169Cys
XM_017019090.1:c.3533T>G	XP_016874579.1:p.Phe1178Cys
NM_015335.5:c.3536T>G MANE Select	NP_056150.1:p.Phe1179Cys