Canonical Allele Identifier: CA386874434

Gene: MED13L

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115966101T>C , CM000674.2:g.115966101T>C	GRCh38
NC_000012.11:g.116403906T>C , CM000674.1:g.116403906T>C	GRCh37
NC_000012.10:g.114888289T>C	NCBI36
NG_023366.1:g.316086A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_015335.5:c.6368A>G MANE Select	NP_056150.1:p.Gln2123Arg
ENST00000281928.9:c.6368A>G MANE Select	ENSP00000281928.3:p.Gln2123Arg
NM_015335.4:c.6368A>G	NP_056150.1:p.Gln2123Arg
ENST00000281928.7:c.6368A>G	ENSP00000281928.3:p.Gln2123Arg
ENST00000548784.2:n.2582A>G
ENST00000648379.1:n.4736A>G
ENST00000648737.1:n.6132A>G
ENST00000648762.1:n.1058A>G
ENST00000648825.1:n.4553A>G
ENST00000648916.1:n.4379A>G
ENST00000649607.1:c.4552A>G
ENST00000649775.1:c.2699A>G
ENST00000650226.1:c.6404A>G	ENSP00000496981.1:p.Gln2135Arg
XM_011538080.1:c.6404A>G	XP_011536382.1:p.Gln2135Arg
XM_011538080.2:c.6404A>G	XP_011536382.1:p.Gln2135Arg
XM_011538081.1:c.6401A>G	XP_011536383.1:p.Gln2134Arg
XM_011538081.2:c.6401A>G	XP_011536383.1:p.Gln2134Arg
XM_011538082.1:c.6374A>G	XP_011536384.1:p.Gln2125Arg
XM_011538082.2:c.6374A>G	XP_011536384.1:p.Gln2125Arg
XM_017019090.1:c.6365A>G	XP_016874579.1:p.Gln2122Arg