Canonical Allele Identifier: CA365668344

Gene: MED23

Linked Data

• ClinVar Variation Id: 1704293
• ClinVar RCV Id: RCV002281640
• MyVariant Identifiers: chr6:g.131919608C>T (hg19) ; chr6:g.131598468C>T (hg38)
• MutSpliceDB: CA365668344

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.131598468C>T , CM000668.2:g.131598468C>T	GRCh38
NC_000006.11:g.131919608C>T , CM000668.1:g.131919608C>T	GRCh37
NC_000006.10:g.131961301C>T	NCBI36
NG_031860.1:g.34756G>A
NG_031860.2:g.34756G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368068.8:c.2427-1G>A MANE Select	ENSP00000357047.3:n.2427-1G>A
ENST00000354577.8:c.2445-1G>A	ENSP00000346588.4:n.2445-1G>A
ENST00000368053.8:c.2445-1G>A	ENSP00000357032.4:n.2445-1G>A
ENST00000368058.5:c.2445-1G>A	ENSP00000357037.1:n.2445-1G>A
ENST00000368060.7:c.2427-1G>A	ENSP00000357039.3:n.2427-1G>A
ENST00000368068.7:c.2427-1G>A	ENSP00000357047.3:n.2427-1G>A
NM_001270521.1:c.2427-1G>A	NP_001257450.1:n.2427-1G>A
NM_001270522.1:c.2427-1G>A	NP_001257451.1:n.2427-1G>A
NM_004830.3:c.2427-1G>A	NP_004821.2:n.2427-1G>A
NM_015979.3:c.2445-1G>A	NP_057063.2:n.2445-1G>A
XM_005267223.1:c.2445-1G>A	XP_005267280.1:n.2445-1G>A
XM_011536257.1:c.2331-1G>A	XP_011534559.1:n.2331-1G>A
XM_005267223.3:c.2445-1G>A	XP_005267280.1:n.2445-1G>A
XM_011536257.3:c.2331-1G>A	XP_011534559.1:n.2331-1G>A
XM_017011501.1:c.1494-1G>A	XP_016866990.1:n.1494-1G>A
NM_004830.4:c.2427-1G>A MANE Select	NP_004821.2:n.2427-1G>A
NM_001270521.2:c.2427-1G>A	NP_001257450.1:n.2427-1G>A
NM_001270522.2:c.2427-1G>A	NP_001257451.1:n.2427-1G>A
NM_001376517.1:c.2445-1G>A	NP_001363446.1:n.2445-1G>A
NM_001376518.1:c.2373-1G>A	NP_001363447.1:n.2373-1G>A
NM_001376519.1:c.2427-1G>A	NP_001363448.1:n.2427-1G>A
NM_001376520.1:c.2286-1G>A	NP_001363449.1:n.2286-1G>A
NM_001376521.1:c.2427-1G>A	NP_001363450.1:n.2427-1G>A
NM_001376522.1:c.2427-1G>A	NP_001363451.1:n.2427-1G>A
NM_001376523.1:c.2172-1G>A	NP_001363452.1:n.2172-1G>A
NM_001376524.1:c.2220+1570G>A	NP_001363453.1:n.2220+1570G>A
NM_015979.4:c.2445-1G>A	NP_057063.2:n.2445-1G>A