Canonical Allele Identifier: CA6810995

Gene: MED13L

Linked Data

• dbSNP Id: rs772450968
• ExAC: 12:116429452 T / C
• gnomAD v2: 12-116429452-T-C
• gnomAD v3: 12-115991647-T-C
• gnomAD v4: 12-115991647-T-C
• MyVariant Identifiers: chr12:g.116429452T>C (hg19) ; chr12:g.115991647T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115991647T>C , CM000674.2:g.115991647T>C	GRCh38
NC_000012.11:g.116429452T>C , CM000674.1:g.116429452T>C	GRCh37
NC_000012.10:g.114913835T>C	NCBI36
NG_023366.1:g.290540A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.3307A>G MANE Select	ENSP00000281928.3:p.Ile1103Val
ENST00000549786.2:c.2735A>G
ENST00000648379.1:n.1675A>G
ENST00000648737.1:n.3071A>G
ENST00000648825.1:n.47A>G
ENST00000648916.1:n.1318A>G
ENST00000649607.1:c.1491A>G
ENST00000650226.1:c.3307A>G	ENSP00000496981.1:p.Ile1103Val
ENST00000281928.7:c.3307A>G	ENSP00000281928.3:p.Ile1103Val
NM_015335.4:c.3307A>G	NP_056150.1:p.Ile1103Val
XM_011538080.1:c.3307A>G	XP_011536382.1:p.Ile1103Val
XM_011538081.1:c.3304A>G	XP_011536383.1:p.Ile1102Val
XM_011538082.1:c.3277A>G	XP_011536384.1:p.Ile1093Val
XM_011538080.2:c.3307A>G	XP_011536382.1:p.Ile1103Val
XM_011538081.2:c.3304A>G	XP_011536383.1:p.Ile1102Val
XM_011538082.2:c.3277A>G	XP_011536384.1:p.Ile1093Val
XM_017019090.1:c.3304A>G	XP_016874579.1:p.Ile1102Val
NM_015335.5:c.3307A>G MANE Select	NP_056150.1:p.Ile1103Val