Canonical Allele Identifier: CA386890896

Gene: MED13L

Linked Data

• ClinVar Variation Id: 2808936
• ClinVar RCV Id: RCV003604146
• MyVariant Identifiers: chr12:g.116435020T>G (hg19) ; chr12:g.115997215T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115997215T>G , CM000674.2:g.115997215T>G	GRCh38
NC_000012.11:g.116435020T>G , CM000674.1:g.116435020T>G	GRCh37
NC_000012.10:g.114919403T>G	NCBI36
NG_023366.1:g.284972A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.2585A>C MANE Select	ENSP00000281928.3:p.Gln862Pro
ENST00000548743.2:c.2555A>C	ENSP00000448553.2:p.Gln852Pro
ENST00000549786.2:c.2013A>C
ENST00000647927.1:n.2958A>C
ENST00000648173.1:n.1380A>C
ENST00000648379.1:n.953A>C
ENST00000648737.1:n.2349A>C
ENST00000648916.1:n.596A>C
ENST00000649607.1:c.769A>C
ENST00000650226.1:c.2585A>C	ENSP00000496981.1:p.Gln862Pro
ENST00000281928.7:c.2585A>C	ENSP00000281928.3:p.Gln862Pro
NM_015335.4:c.2585A>C	NP_056150.1:p.Gln862Pro
XM_011538080.1:c.2585A>C	XP_011536382.1:p.Gln862Pro
XM_011538081.1:c.2582A>C	XP_011536383.1:p.Gln861Pro
XM_011538082.1:c.2555A>C	XP_011536384.1:p.Gln852Pro
XM_011538080.2:c.2585A>C	XP_011536382.1:p.Gln862Pro
XM_011538081.2:c.2582A>C	XP_011536383.1:p.Gln861Pro
XM_011538082.2:c.2555A>C	XP_011536384.1:p.Gln852Pro
XM_017019090.1:c.2582A>C	XP_016874579.1:p.Gln861Pro
NM_015335.5:c.2585A>C MANE Select	NP_056150.1:p.Gln862Pro