Canonical Allele Identifier: CA386878882

Gene: MED13L

Linked Data

• dbSNP Id: rs1876877612
• gnomAD v3: 12-115975530-A-G
• gnomAD v4: 12-115975530-A-G
• MyVariant Identifiers: chr12:g.116413335A>G (hg19) ; chr12:g.115975530A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115975530A>G , CM000674.2:g.115975530A>G	GRCh38
NC_000012.11:g.116413335A>G , CM000674.1:g.116413335A>G	GRCh37
NC_000012.10:g.114897718A>G	NCBI36
NG_023366.1:g.306657T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5573T>C MANE Select	ENSP00000281928.3:p.Ile1858Thr
ENST00000548694.2:n.362T>C
ENST00000648379.1:n.3941T>C
ENST00000648737.1:n.5337T>C
ENST00000648825.1:n.3758T>C
ENST00000648916.1:n.3584T>C
ENST00000649607.1:c.3757T>C
ENST00000649775.1:c.2062T>C
ENST00000650226.1:c.5573T>C	ENSP00000496981.1:p.Ile1858Thr
ENST00000281928.7:c.5573T>C	ENSP00000281928.3:p.Ile1858Thr
ENST00000548694.1:n.362T>C
ENST00000552447.1:c.150T>C
NM_015335.4:c.5573T>C	NP_056150.1:p.Ile1858Thr
XM_011538080.1:c.5573T>C	XP_011536382.1:p.Ile1858Thr
XM_011538081.1:c.5570T>C	XP_011536383.1:p.Ile1857Thr
XM_011538082.1:c.5543T>C	XP_011536384.1:p.Ile1848Thr
XM_011538080.2:c.5573T>C	XP_011536382.1:p.Ile1858Thr
XM_011538081.2:c.5570T>C	XP_011536383.1:p.Ile1857Thr
XM_011538082.2:c.5543T>C	XP_011536384.1:p.Ile1848Thr
XM_017019090.1:c.5570T>C	XP_016874579.1:p.Ile1857Thr
NM_015335.5:c.5573T>C MANE Select	NP_056150.1:p.Ile1858Thr