Canonical Allele Identifier: CA147904065
Community Standard Title: NM_004830.4(MED23):c.3939+270A>T
Gene: MED23 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.131589195T>A , CM000668.2:g.131589195T>A GRCh38
NC_000006.11:g.131910335T>A , CM000668.1:g.131910335T>A GRCh37
NC_000006.10:g.131952028T>A NCBI36
NG_031860.1:g.44029A>T
NG_031860.2:g.44029A>T

Transcript Alleles

HGVS Amino-acid Change
NM_004830.4:c.3939+270A>T MANE Select NP_004821.2:n.3939+270A>T
ENST00000368068.8:c.3939+270A>T MANE Select ENSP00000357047.3:n.3939+270A>T
NM_001270521.1:c.3939+270A>T NP_001257450.1:n.3939+270A>T
NM_001270521.2:c.3939+270A>T NP_001257450.1:n.3939+270A>T
NM_001270522.1:c.3939+270A>T NP_001257451.1:n.3939+270A>T
NM_001270522.2:c.3939+270A>T NP_001257451.1:n.3939+270A>T
NM_001376517.1:c.3957+270A>T NP_001363446.1:n.3957+270A>T
NM_001376518.1:c.3885+270A>T NP_001363447.1:n.3885+270A>T
NM_001376519.1:c.3801+270A>T NP_001363448.1:n.3801+270A>T
NM_001376520.1:c.3798+270A>T NP_001363449.1:n.3798+270A>T
NM_001376521.1:c.3801+270A>T NP_001363450.1:n.3801+270A>T
NM_001376522.1:c.3768+270A>T NP_001363451.1:n.3768+270A>T
NM_001376523.1:c.3684+270A>T NP_001363452.1:n.3684+270A>T
NM_001376524.1:c.3552+270A>T NP_001363453.1:n.3552+270A>T
NM_004830.3:c.3939+270A>T NP_004821.2:n.3939+270A>T
NM_015979.3:c.3957+270A>T NP_057063.2:n.3957+270A>T
NM_015979.4:c.3957+270A>T NP_057063.2:n.3957+270A>T
ENST00000354577.8:c.3957+270A>T ENSP00000346588.4:n.3957+270A>T
ENST00000368058.5:c.3961+266A>T ENSP00000357037.1:n.3961+266A>T
ENST00000368060.7:c.3939+270A>T ENSP00000357039.3:n.3939+270A>T
ENST00000368068.7:c.3939+270A>T ENSP00000357047.3:n.3939+270A>T
ENST00000479213.1:n.2064+270A>T
XM_005267223.1:c.3957+270A>T XP_005267280.1:n.3957+270A>T
XM_005267223.3:c.3957+270A>T XP_005267280.1:n.3957+270A>T
XM_011536257.1:c.3843+270A>T XP_011534559.1:n.3843+270A>T
XM_011536257.3:c.3843+270A>T XP_011534559.1:n.3843+270A>T
XM_017011501.1:c.3006+270A>T XP_016866990.1:n.3006+270A>T