Canonical Allele Identifier: CA16618245
Gene: MED23 HGNC NCBI

Linked Data

ClinVar Variation Id: 423225
ClinVar RCV Id: RCV000482192
dbSNP Id: rs1064796306

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.131620627C>A , CM000668.2:g.131620627C>A GRCh38
NC_000006.11:g.131941767C>A , CM000668.1:g.131941767C>A GRCh37
NC_000006.10:g.131983460C>A NCBI36
NG_031860.1:g.12597G>T
NG_031860.2:g.12597G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000368068.8:c.597+1G>T MANE Select ENSP00000357047.3:n.597+1G>T
ENST00000354577.8:c.597+1G>T ENSP00000346588.4:n.597+1G>T
ENST00000368053.8:c.597+1G>T ENSP00000357032.4:n.597+1G>T
ENST00000368058.5:c.597+1G>T ENSP00000357037.1:n.597+1G>T
ENST00000368060.7:c.597+1G>T ENSP00000357039.3:n.597+1G>T
ENST00000368068.7:c.597+1G>T ENSP00000357047.3:n.597+1G>T
ENST00000539158.1:c.597+1G>T ENSP00000445072.1:n.597+1G>T
NM_001270521.1:c.597+1G>T NP_001257450.1:n.597+1G>T
NM_001270522.1:c.597+1G>T NP_001257451.1:n.597+1G>T
NM_004830.3:c.597+1G>T NP_004821.2:n.597+1G>T
NM_015979.3:c.597+1G>T NP_057063.2:n.597+1G>T
XM_005267223.1:c.597+1G>T XP_005267280.1:n.597+1G>T
XM_006715612.2:c.597+1G>T XP_006715675.1:n.597+1G>T
XM_011536257.1:c.597+1G>T XP_011534559.1:n.597+1G>T
XM_005267223.3:c.597+1G>T XP_005267280.1:n.597+1G>T
XM_006715612.3:c.597+1G>T XP_006715675.1:n.597+1G>T
XM_011536257.3:c.597+1G>T XP_011534559.1:n.597+1G>T
NM_004830.4:c.597+1G>T MANE Select NP_004821.2:n.597+1G>T
NM_001270521.2:c.597+1G>T NP_001257450.1:n.597+1G>T
NM_001270522.2:c.597+1G>T NP_001257451.1:n.597+1G>T
NM_001376517.1:c.597+1G>T NP_001363446.1:n.597+1G>T
NM_001376518.1:c.525+1G>T NP_001363447.1:n.525+1G>T
NM_001376519.1:c.597+1G>T NP_001363448.1:n.597+1G>T
NM_001376520.1:c.597+1G>T NP_001363449.1:n.597+1G>T
NM_001376521.1:c.597+1G>T NP_001363450.1:n.597+1G>T
NM_001376522.1:c.597+1G>T NP_001363451.1:n.597+1G>T
NM_001376523.1:c.597+1G>T NP_001363452.1:n.597+1G>T
NM_001376524.1:c.597+1G>T NP_001363453.1:n.597+1G>T
NM_015979.4:c.597+1G>T NP_057063.2:n.597+1G>T