Canonical Allele Identifier: CA386898198

Gene: MED13L

Linked Data

• ClinVar Variation Id: 2433718
• ClinVar RCV Id: RCV003132638
• MyVariant Identifiers: chr12:g.116450615A>C (hg19) ; chr12:g.116012810A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.116012810A>C , CM000674.2:g.116012810A>C	GRCh38
NC_000012.11:g.116450615A>C , CM000674.1:g.116450615A>C	GRCh37
NC_000012.10:g.114934998A>C	NCBI36
NG_023366.1:g.269377T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.1267T>G MANE Select	ENSP00000281928.3:p.Cys423Gly
ENST00000548743.2:c.1237T>G	ENSP00000448553.2:p.Cys413Gly
ENST00000549786.2:c.695T>G
ENST00000647567.1:c.1174T>G	ENSP00000497136.1:p.Cys392Gly
ENST00000648737.1:n.1031T>G
ENST00000650226.1:c.1267T>G	ENSP00000496981.1:p.Cys423Gly
ENST00000281928.7:c.1267T>G	ENSP00000281928.3:p.Cys423Gly
NM_015335.4:c.1267T>G	NP_056150.1:p.Cys423Gly
XM_011538080.1:c.1267T>G	XP_011536382.1:p.Cys423Gly
XM_011538081.1:c.1267T>G	XP_011536383.1:p.Cys423Gly
XM_011538082.1:c.1237T>G	XP_011536384.1:p.Cys413Gly
XM_011538080.2:c.1267T>G	XP_011536382.1:p.Cys423Gly
XM_011538081.2:c.1267T>G	XP_011536383.1:p.Cys423Gly
XM_011538082.2:c.1237T>G	XP_011536384.1:p.Cys413Gly
XM_017019090.1:c.1267T>G	XP_016874579.1:p.Cys423Gly
NM_015335.5:c.1267T>G MANE Select	NP_056150.1:p.Cys423Gly