Canonical Allele Identifier: CA386878257

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116413029G>C (hg19) ; chr12:g.115975224G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115975224G>C , CM000674.2:g.115975224G>C	GRCh38
NC_000012.11:g.116413029G>C , CM000674.1:g.116413029G>C	GRCh37
NC_000012.10:g.114897412G>C	NCBI36
NG_023366.1:g.306963C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5678C>G MANE Select	ENSP00000281928.3:p.Pro1893Arg
ENST00000548694.2:n.668C>G
ENST00000648379.1:n.4046C>G
ENST00000648737.1:n.5442C>G
ENST00000648825.1:n.3863C>G
ENST00000648916.1:n.3689C>G
ENST00000649607.1:c.3862C>G
ENST00000649775.1:c.2167C>G
ENST00000650226.1:c.5714C>G	ENSP00000496981.1:p.Pro1905Arg
ENST00000281928.7:c.5678C>G	ENSP00000281928.3:p.Pro1893Arg
ENST00000548694.1:n.668C>G
ENST00000552447.1:c.291C>G
NM_015335.4:c.5678C>G	NP_056150.1:p.Pro1893Arg
XM_011538080.1:c.5714C>G	XP_011536382.1:p.Pro1905Arg
XM_011538081.1:c.5711C>G	XP_011536383.1:p.Pro1904Arg
XM_011538082.1:c.5684C>G	XP_011536384.1:p.Pro1895Arg
XM_011538080.2:c.5714C>G	XP_011536382.1:p.Pro1905Arg
XM_011538081.2:c.5711C>G	XP_011536383.1:p.Pro1904Arg
XM_011538082.2:c.5684C>G	XP_011536384.1:p.Pro1895Arg
XM_017019090.1:c.5675C>G	XP_016874579.1:p.Pro1892Arg
NM_015335.5:c.5678C>G MANE Select	NP_056150.1:p.Pro1893Arg