Canonical Allele Identifier: CA365658890

Gene: MED23

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.131591509G>A , CM000668.2:g.131591509G>A	GRCh38
NC_000006.11:g.131912649G>A , CM000668.1:g.131912649G>A	GRCh37
NC_000006.10:g.131954342G>A	NCBI36
NG_031860.1:g.41715C>T
NG_031860.2:g.41715C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004830.4:c.3490C>T MANE Select	NP_004821.2:p.Leu1164Phe
ENST00000368068.8:c.3490C>T MANE Select	ENSP00000357047.3:p.Leu1164Phe
NM_001270521.1:c.3490C>T	NP_001257450.1:p.Leu1164Phe
NM_001270521.2:c.3490C>T	NP_001257450.1:p.Leu1164Phe
NM_001270522.1:c.3490C>T	NP_001257451.1:p.Leu1164Phe
NM_001270522.2:c.3490C>T	NP_001257451.1:p.Leu1164Phe
NM_001376517.1:c.3508C>T	NP_001363446.1:p.Leu1170Phe
NM_001376518.1:c.3436C>T	NP_001363447.1:p.Leu1146Phe
NM_001376519.1:c.3352C>T	NP_001363448.1:p.Leu1118Phe
NM_001376520.1:c.3349C>T	NP_001363449.1:p.Leu1117Phe
NM_001376521.1:c.3352C>T	NP_001363450.1:p.Leu1118Phe
NM_001376522.1:c.3319C>T	NP_001363451.1:p.Leu1107Phe
NM_001376523.1:c.3235C>T	NP_001363452.1:p.Leu1079Phe
NM_001376524.1:c.3103C>T	NP_001363453.1:p.Leu1035Phe
NM_004830.3:c.3490C>T	NP_004821.2:p.Leu1164Phe
NM_015979.3:c.3508C>T	NP_057063.2:p.Leu1170Phe
NM_015979.4:c.3508C>T	NP_057063.2:p.Leu1170Phe
ENST00000354577.8:c.3508C>T	ENSP00000346588.4:p.Leu1170Phe
ENST00000368058.5:c.3508C>T	ENSP00000357037.1:p.Leu1170Phe
ENST00000368060.7:c.3490C>T	ENSP00000357039.3:p.Leu1164Phe
ENST00000368068.7:c.3490C>T	ENSP00000357047.3:p.Leu1164Phe
ENST00000479213.1:n.1615C>T
ENST00000484885.1:n.476C>T
XM_005267223.1:c.3508C>T	XP_005267280.1:p.Leu1170Phe
XM_005267223.3:c.3508C>T	XP_005267280.1:p.Leu1170Phe
XM_011536257.1:c.3394C>T	XP_011534559.1:p.Leu1132Phe
XM_011536257.3:c.3394C>T	XP_011534559.1:p.Leu1132Phe
XM_017011501.1:c.2557C>T	XP_016866990.1:p.Leu853Phe