Canonical Allele Identifier: CA386888088

Gene: MED13L

Linked Data

• dbSNP Id: rs1473984872
• gnomAD v2: 12-116429416-G-C
• gnomAD v4: 12-115991611-G-C
• COSMIC: COSM3811146
• MyVariant Identifiers: chr12:g.116429416G>C (hg19) ; chr12:g.115991611G>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.3343C>G MANE Select	ENSP00000281928.3:p.Leu1115Val
ENST00000549786.2:c.2771C>G
ENST00000648379.1:n.1711C>G
ENST00000648737.1:n.3107C>G
ENST00000648825.1:n.83C>G
ENST00000648916.1:n.1354C>G
ENST00000649607.1:c.1527C>G
ENST00000650226.1:c.3343C>G	ENSP00000496981.1:p.Leu1115Val
ENST00000281928.7:c.3343C>G	ENSP00000281928.3:p.Leu1115Val
NM_015335.4:c.3343C>G	NP_056150.1:p.Leu1115Val
XM_011538080.1:c.3343C>G	XP_011536382.1:p.Leu1115Val
XM_011538081.1:c.3340C>G	XP_011536383.1:p.Leu1114Val
XM_011538082.1:c.3313C>G	XP_011536384.1:p.Leu1105Val
XM_011538080.2:c.3343C>G	XP_011536382.1:p.Leu1115Val
XM_011538081.2:c.3340C>G	XP_011536383.1:p.Leu1114Val
XM_011538082.2:c.3313C>G	XP_011536384.1:p.Leu1105Val
XM_017019090.1:c.3340C>G	XP_016874579.1:p.Leu1114Val
NM_015335.5:c.3343C>G MANE Select	NP_056150.1:p.Leu1115Val