Canonical Allele Identifier: CA386878189

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116413013G>C (hg19) ; chr12:g.115975208G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115975208G>C , CM000674.2:g.115975208G>C	GRCh38
NC_000012.11:g.116413013G>C , CM000674.1:g.116413013G>C	GRCh37
NC_000012.10:g.114897396G>C	NCBI36
NG_023366.1:g.306979C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5694C>G MANE Select	ENSP00000281928.3:p.Ile1898Met
ENST00000548694.2:n.684C>G
ENST00000648379.1:n.4062C>G
ENST00000648737.1:n.5458C>G
ENST00000648825.1:n.3879C>G
ENST00000648916.1:n.3705C>G
ENST00000649607.1:c.3878C>G
ENST00000649775.1:c.2183C>G
ENST00000650226.1:c.5730C>G	ENSP00000496981.1:p.Ile1910Met
ENST00000281928.7:c.5694C>G	ENSP00000281928.3:p.Ile1898Met
ENST00000548694.1:n.684C>G
ENST00000552447.1:c.307C>G
NM_015335.4:c.5694C>G	NP_056150.1:p.Ile1898Met
XM_011538080.1:c.5730C>G	XP_011536382.1:p.Ile1910Met
XM_011538081.1:c.5727C>G	XP_011536383.1:p.Ile1909Met
XM_011538082.1:c.5700C>G	XP_011536384.1:p.Ile1900Met
XM_011538080.2:c.5730C>G	XP_011536382.1:p.Ile1910Met
XM_011538081.2:c.5727C>G	XP_011536383.1:p.Ile1909Met
XM_011538082.2:c.5700C>G	XP_011536384.1:p.Ile1900Met
XM_017019090.1:c.5691C>G	XP_016874579.1:p.Ile1897Met
NM_015335.5:c.5694C>G MANE Select	NP_056150.1:p.Ile1898Met