Canonical Allele Identifier: CA386883741

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116422124G>C (hg19) ; chr12:g.115984319G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115984319G>C , CM000674.2:g.115984319G>C	GRCh38
NC_000012.11:g.116422124G>C , CM000674.1:g.116422124G>C	GRCh37
NC_000012.10:g.114906507G>C	NCBI36
NG_023366.1:g.297868C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.4392C>G MANE Select	ENSP00000281928.3:p.Ile1464Met
ENST00000549786.2:c.3820C>G
ENST00000648379.1:n.2760C>G
ENST00000648737.1:n.4156C>G
ENST00000648825.1:n.1132C>G
ENST00000648916.1:n.2403C>G
ENST00000649146.1:n.1122C>G
ENST00000649607.1:c.2576C>G
ENST00000649775.1:c.889C>G
ENST00000650091.1:n.2368C>G
ENST00000650226.1:c.4392C>G	ENSP00000496981.1:p.Ile1464Met
ENST00000281928.7:c.4392C>G	ENSP00000281928.3:p.Ile1464Met
NM_015335.4:c.4392C>G	NP_056150.1:p.Ile1464Met
XM_011538080.1:c.4392C>G	XP_011536382.1:p.Ile1464Met
XM_011538081.1:c.4389C>G	XP_011536383.1:p.Ile1463Met
XM_011538082.1:c.4362C>G	XP_011536384.1:p.Ile1454Met
XM_011538080.2:c.4392C>G	XP_011536382.1:p.Ile1464Met
XM_011538081.2:c.4389C>G	XP_011536383.1:p.Ile1463Met
XM_011538082.2:c.4362C>G	XP_011536384.1:p.Ile1454Met
XM_017019090.1:c.4389C>G	XP_016874579.1:p.Ile1463Met
NM_015335.5:c.4392C>G MANE Select	NP_056150.1:p.Ile1464Met