Canonical Allele Identifier: CA386883791

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116422147A>G (hg19) ; chr12:g.115984342A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115984342A>G , CM000674.2:g.115984342A>G	GRCh38
NC_000012.11:g.116422147A>G , CM000674.1:g.116422147A>G	GRCh37
NC_000012.10:g.114906530A>G	NCBI36
NG_023366.1:g.297845T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.4369T>C MANE Select	ENSP00000281928.3:p.Cys1457Arg
ENST00000549786.2:c.3797T>C
ENST00000648379.1:n.2737T>C
ENST00000648737.1:n.4133T>C
ENST00000648825.1:n.1109T>C
ENST00000648916.1:n.2380T>C
ENST00000649146.1:n.1099T>C
ENST00000649607.1:c.2553T>C
ENST00000649775.1:c.866T>C
ENST00000650091.1:n.2345T>C
ENST00000650226.1:c.4369T>C	ENSP00000496981.1:p.Cys1457Arg
ENST00000281928.7:c.4369T>C	ENSP00000281928.3:p.Cys1457Arg
NM_015335.4:c.4369T>C	NP_056150.1:p.Cys1457Arg
XM_011538080.1:c.4369T>C	XP_011536382.1:p.Cys1457Arg
XM_011538081.1:c.4366T>C	XP_011536383.1:p.Cys1456Arg
XM_011538082.1:c.4339T>C	XP_011536384.1:p.Cys1447Arg
XM_011538080.2:c.4369T>C	XP_011536382.1:p.Cys1457Arg
XM_011538081.2:c.4366T>C	XP_011536383.1:p.Cys1456Arg
XM_011538082.2:c.4339T>C	XP_011536384.1:p.Cys1447Arg
XM_017019090.1:c.4366T>C	XP_016874579.1:p.Cys1456Arg
NM_015335.5:c.4369T>C MANE Select	NP_056150.1:p.Cys1457Arg