Canonical Allele Identifier: CA386872177

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116460292G>C (hg19) ; chr12:g.116022487G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.116022487G>C , CM000674.2:g.116022487G>C	GRCh38
NC_000012.11:g.116460292G>C , CM000674.1:g.116460292G>C	GRCh37
NC_000012.10:g.114944675G>C	NCBI36
NG_023366.1:g.259700C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.594C>G MANE Select	ENSP00000281928.3:p.His198Gln
ENST00000548743.2:c.564C>G	ENSP00000448553.2:p.His188Gln
ENST00000549786.2:c.22C>G
ENST00000647567.1:c.504C>G	ENSP00000497136.1:p.His168Gln
ENST00000648737.1:n.358C>G
ENST00000650226.1:c.594C>G	ENSP00000496981.1:p.His198Gln
ENST00000281928.7:c.594C>G	ENSP00000281928.3:p.His198Gln
NM_015335.4:c.594C>G	NP_056150.1:p.His198Gln
XM_011538080.1:c.594C>G	XP_011536382.1:p.His198Gln
XM_011538081.1:c.594C>G	XP_011536383.1:p.His198Gln
XM_011538082.1:c.564C>G	XP_011536384.1:p.His188Gln
XM_011538080.2:c.594C>G	XP_011536382.1:p.His198Gln
XM_011538081.2:c.594C>G	XP_011536383.1:p.His198Gln
XM_011538082.2:c.564C>G	XP_011536384.1:p.His188Gln
XM_017019090.1:c.594C>G	XP_016874579.1:p.His198Gln
NM_015335.5:c.594C>G MANE Select	NP_056150.1:p.His198Gln