Canonical Allele Identifier: CA386888090

Gene: MED13L

Linked Data

• ClinVar Variation Id: 2700568
• ClinVar RCV Id: RCV003498229
• MyVariant Identifiers: chr12:g.116429416G>T (hg19) ; chr12:g.115991611G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115991611G>T , CM000674.2:g.115991611G>T	GRCh38
NC_000012.11:g.116429416G>T , CM000674.1:g.116429416G>T	GRCh37
NC_000012.10:g.114913799G>T	NCBI36
NG_023366.1:g.290576C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.3343C>A MANE Select	ENSP00000281928.3:p.Leu1115Ile
ENST00000549786.2:c.2771C>A
ENST00000648379.1:n.1711C>A
ENST00000648737.1:n.3107C>A
ENST00000648825.1:n.83C>A
ENST00000648916.1:n.1354C>A
ENST00000649607.1:c.1527C>A
ENST00000650226.1:c.3343C>A	ENSP00000496981.1:p.Leu1115Ile
ENST00000281928.7:c.3343C>A	ENSP00000281928.3:p.Leu1115Ile
NM_015335.4:c.3343C>A	NP_056150.1:p.Leu1115Ile
XM_011538080.1:c.3343C>A	XP_011536382.1:p.Leu1115Ile
XM_011538081.1:c.3340C>A	XP_011536383.1:p.Leu1114Ile
XM_011538082.1:c.3313C>A	XP_011536384.1:p.Leu1105Ile
XM_011538080.2:c.3343C>A	XP_011536382.1:p.Leu1115Ile
XM_011538081.2:c.3340C>A	XP_011536383.1:p.Leu1114Ile
XM_011538082.2:c.3313C>A	XP_011536384.1:p.Leu1105Ile
XM_017019090.1:c.3340C>A	XP_016874579.1:p.Leu1114Ile
NM_015335.5:c.3343C>A MANE Select	NP_056150.1:p.Leu1115Ile