Canonical Allele Identifier: CA386876223

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116408467G>C (hg19) ; chr12:g.115970662G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115970662G>C , CM000674.2:g.115970662G>C	GRCh38
NC_000012.11:g.116408467G>C , CM000674.1:g.116408467G>C	GRCh37
NC_000012.10:g.114892850G>C	NCBI36
NG_023366.1:g.311525C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5999C>G MANE Select	ENSP00000281928.3:p.Pro2000Arg
ENST00000548784.2:n.2213C>G
ENST00000648379.1:n.4367C>G
ENST00000648737.1:n.5763C>G
ENST00000648825.1:n.4184C>G
ENST00000648916.1:n.4010C>G
ENST00000649607.1:c.4183C>G
ENST00000649775.1:c.2488C>G
ENST00000650226.1:c.6035C>G	ENSP00000496981.1:p.Pro2012Arg
ENST00000281928.7:c.5999C>G	ENSP00000281928.3:p.Pro2000Arg
NM_015335.4:c.5999C>G	NP_056150.1:p.Pro2000Arg
XM_011538080.1:c.6035C>G	XP_011536382.1:p.Pro2012Arg
XM_011538081.1:c.6032C>G	XP_011536383.1:p.Pro2011Arg
XM_011538082.1:c.6005C>G	XP_011536384.1:p.Pro2002Arg
XM_011538080.2:c.6035C>G	XP_011536382.1:p.Pro2012Arg
XM_011538081.2:c.6032C>G	XP_011536383.1:p.Pro2011Arg
XM_011538082.2:c.6005C>G	XP_011536384.1:p.Pro2002Arg
XM_017019090.1:c.5996C>G	XP_016874579.1:p.Pro1999Arg
NM_015335.5:c.5999C>G MANE Select	NP_056150.1:p.Pro2000Arg