Canonical Allele Identifier: CA386876099

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116408413A>C (hg19) ; chr12:g.115970608A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115970608A>C , CM000674.2:g.115970608A>C	GRCh38
NC_000012.11:g.116408413A>C , CM000674.1:g.116408413A>C	GRCh37
NC_000012.10:g.114892796A>C	NCBI36
NG_023366.1:g.311579T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000281928.9:c.6053T>G MANE Select	ENSP00000281928.3:p.Phe2018Cys
ENST00000548784.2:n.2267T>G
ENST00000648379.1:n.4421T>G
ENST00000648737.1:n.5817T>G
ENST00000648825.1:n.4238T>G
ENST00000648916.1:n.4064T>G
ENST00000649607.1:c.4237T>G
ENST00000649775.1:c.2542T>G
ENST00000650226.1:c.6089T>G	ENSP00000496981.1:p.Phe2030Cys
ENST00000281928.7:c.6053T>G	ENSP00000281928.3:p.Phe2018Cys
NM_015335.4:c.6053T>G	NP_056150.1:p.Phe2018Cys
XM_011538080.1:c.6089T>G	XP_011536382.1:p.Phe2030Cys
XM_011538081.1:c.6086T>G	XP_011536383.1:p.Phe2029Cys
XM_011538082.1:c.6059T>G	XP_011536384.1:p.Phe2020Cys
XM_011538080.2:c.6089T>G	XP_011536382.1:p.Phe2030Cys
XM_011538081.2:c.6086T>G	XP_011536383.1:p.Phe2029Cys
XM_011538082.2:c.6059T>G	XP_011536384.1:p.Phe2020Cys
XM_017019090.1:c.6050T>G	XP_016874579.1:p.Phe2017Cys
NM_015335.5:c.6053T>G MANE Select	NP_056150.1:p.Phe2018Cys