Canonical Allele Identifier: CA382357230

Gene: MED17

Linked Data

• dbSNP Id: rs1201148354
• gnomAD v2: 11-93529581-C-G
• gnomAD v3: 11-93796415-C-G
• gnomAD v4: 11-93796415-C-G
• MyVariant Identifiers: chr11:g.93529581C>G (hg19) ; chr11:g.93796415C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.93796415C>G , CM000673.2:g.93796415C>G	GRCh38
NC_000011.9:g.93529581C>G , CM000673.1:g.93529581C>G	GRCh37
NC_000011.8:g.93169229C>G	NCBI36
NG_028028.1:g.17177C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000251871.9:c.1018C>G MANE Select	ENSP00000251871.3:p.Gln340Glu
ENST00000507258.4:n.2731C>G
ENST00000525026.6:n.1325C>G
ENST00000529626.2:n.1021C>G
ENST00000531920.6:n.319C>G
ENST00000533133.6:c.1018C>G	ENSP00000433090.2:p.Gln340Glu
ENST00000533367.6:n.56C>G
ENST00000638294.1:c.631C>G	ENSP00000491675.1:p.Gln211Glu
ENST00000638487.1:c.*344C>G	ENSP00000492294.1:n.*344C>G
ENST00000638518.1:c.354-5420C>G
ENST00000638767.1:c.1579C>G	ENSP00000492220.1:p.Gln527Glu
ENST00000638790.1:c.1046C>G	ENSP00000491457.1:n.1046C>G
ENST00000639189.1:c.1018C>G	ENSP00000491770.1:p.Gln340Glu
ENST00000639457.1:c.*344C>G	ENSP00000492391.1:n.*344C>G
ENST00000639523.1:c.953C>G
ENST00000639596.1:c.1018C>G	ENSP00000491918.1:p.Gln340Glu
ENST00000639724.1:c.1018C>G	ENSP00000492625.1:p.Gln340Glu
ENST00000640027.1:c.1018C>G	ENSP00000492872.1:p.Gln340Glu
ENST00000640077.1:c.554-522C>G	ENSP00000490968.1:n.554-522C>G
ENST00000640451.1:c.865C>G	ENSP00000492530.1:p.Gln289Glu
ENST00000640473.1:c.251-1120C>G	ENSP00000491371.1:n.251-1120C>G
ENST00000640521.1:c.1018C>G	ENSP00000491108.1:p.Gln340Glu
ENST00000640583.1:n.1581C>G
ENST00000640804.1:n.1391C>G
ENST00000251871.7:c.1018C>G	ENSP00000251871.3:p.Gln340Glu
ENST00000507258.3:n.349C>G
ENST00000525026.5:n.2473C>G
ENST00000531920.5:n.319C>G
ENST00000533133.5:c.*303C>G	ENSP00000433090.1:n.*303C>G
ENST00000533367.5:n.71C>G
NM_004268.4:c.1018C>G	NP_004259.3:p.Gln340Glu
XM_011543068.1:c.1018C>G	XP_011541370.1:p.Gln340Glu
XR_247218.1:n.1252C>G
XR_947872.1:n.1252C>G
NM_004268.5:c.1018C>G MANE Select	NP_004259.3:p.Gln340Glu