Canonical Allele Identifier: CA386875357

Gene: MED13L

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115966195G>C , CM000674.2:g.115966195G>C	GRCh38
NC_000012.11:g.116404000G>C , CM000674.1:g.116404000G>C	GRCh37
NC_000012.10:g.114888383G>C	NCBI36
NG_023366.1:g.315992C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.6274C>G MANE Select	ENSP00000281928.3:p.Gln2092Glu
ENST00000548784.2:n.2488C>G
ENST00000648379.1:n.4642C>G
ENST00000648737.1:n.6038C>G
ENST00000648762.1:n.964C>G
ENST00000648825.1:n.4459C>G
ENST00000648916.1:n.4285C>G
ENST00000649607.1:c.4458C>G
ENST00000649775.1:c.2605C>G
ENST00000650226.1:c.6310C>G	ENSP00000496981.1:p.Gln2104Glu
ENST00000281928.7:c.6274C>G	ENSP00000281928.3:p.Gln2092Glu
NM_015335.4:c.6274C>G	NP_056150.1:p.Gln2092Glu
XM_011538080.1:c.6310C>G	XP_011536382.1:p.Gln2104Glu
XM_011538081.1:c.6307C>G	XP_011536383.1:p.Gln2103Glu
XM_011538082.1:c.6280C>G	XP_011536384.1:p.Gln2094Glu
XM_011538080.2:c.6310C>G	XP_011536382.1:p.Gln2104Glu
XM_011538081.2:c.6307C>G	XP_011536383.1:p.Gln2103Glu
XM_011538082.2:c.6280C>G	XP_011536384.1:p.Gln2094Glu
XM_017019090.1:c.6271C>G	XP_016874579.1:p.Gln2091Glu
NM_015335.5:c.6274C>G MANE Select	NP_056150.1:p.Gln2092Glu