Canonical Allele Identifier: CA386874615

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116403943G>C (hg19) ; chr12:g.115966138G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115966138G>C , CM000674.2:g.115966138G>C	GRCh38
NC_000012.11:g.116403943G>C , CM000674.1:g.116403943G>C	GRCh37
NC_000012.10:g.114888326G>C	NCBI36
NG_023366.1:g.316049C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000281928.9:c.6331C>G MANE Select	ENSP00000281928.3:p.Gln2111Glu
ENST00000548784.2:n.2545C>G
ENST00000648379.1:n.4699C>G
ENST00000648737.1:n.6095C>G
ENST00000648762.1:n.1021C>G
ENST00000648825.1:n.4516C>G
ENST00000648916.1:n.4342C>G
ENST00000649607.1:c.4515C>G
ENST00000649775.1:c.2662C>G
ENST00000650226.1:c.6367C>G	ENSP00000496981.1:p.Gln2123Glu
ENST00000281928.7:c.6331C>G	ENSP00000281928.3:p.Gln2111Glu
NM_015335.4:c.6331C>G	NP_056150.1:p.Gln2111Glu
XM_011538080.1:c.6367C>G	XP_011536382.1:p.Gln2123Glu
XM_011538081.1:c.6364C>G	XP_011536383.1:p.Gln2122Glu
XM_011538082.1:c.6337C>G	XP_011536384.1:p.Gln2113Glu
XM_011538080.2:c.6367C>G	XP_011536382.1:p.Gln2123Glu
XM_011538081.2:c.6364C>G	XP_011536383.1:p.Gln2122Glu
XM_011538082.2:c.6337C>G	XP_011536384.1:p.Gln2113Glu
XM_017019090.1:c.6328C>G	XP_016874579.1:p.Gln2110Glu
NM_015335.5:c.6331C>G MANE Select	NP_056150.1:p.Gln2111Glu