Canonical Allele Identifier: CA386883614

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116422067C>G (hg19) ; chr12:g.115984262C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115984262C>G , CM000674.2:g.115984262C>G	GRCh38
NC_000012.11:g.116422067C>G , CM000674.1:g.116422067C>G	GRCh37
NC_000012.10:g.114906450C>G	NCBI36
NG_023366.1:g.297925G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000281928.9:c.4449G>C MANE Select	ENSP00000281928.3:p.Trp1483Cys
ENST00000549786.2:c.3877G>C
ENST00000648379.1:n.2817G>C
ENST00000648737.1:n.4213G>C
ENST00000648825.1:n.1189G>C
ENST00000648916.1:n.2460G>C
ENST00000649146.1:n.1179G>C
ENST00000649607.1:c.2633G>C
ENST00000649775.1:c.946G>C
ENST00000650091.1:n.2425G>C
ENST00000650226.1:c.4449G>C	ENSP00000496981.1:p.Trp1483Cys
ENST00000281928.7:c.4449G>C	ENSP00000281928.3:p.Trp1483Cys
NM_015335.4:c.4449G>C	NP_056150.1:p.Trp1483Cys
XM_011538080.1:c.4449G>C	XP_011536382.1:p.Trp1483Cys
XM_011538081.1:c.4446G>C	XP_011536383.1:p.Trp1482Cys
XM_011538082.1:c.4419G>C	XP_011536384.1:p.Trp1473Cys
XM_011538080.2:c.4449G>C	XP_011536382.1:p.Trp1483Cys
XM_011538081.2:c.4446G>C	XP_011536383.1:p.Trp1482Cys
XM_011538082.2:c.4419G>C	XP_011536384.1:p.Trp1473Cys
XM_017019090.1:c.4446G>C	XP_016874579.1:p.Trp1482Cys
NM_015335.5:c.4449G>C MANE Select	NP_056150.1:p.Trp1483Cys