Canonical Allele Identifier: CA3999459

Gene: MED23

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.131587706C>A , CM000668.2:g.131587706C>A	GRCh38
NC_000006.11:g.131908846C>A , CM000668.1:g.131908846C>A	GRCh37
NC_000006.10:g.131950539C>A	NCBI36
NG_031860.1:g.45518G>T
NG_031860.2:g.45518G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368068.8:c.4080G>T MANE Select	ENSP00000357047.3:p.Val1360=
ENST00000354577.8:c.4095+3G>T	ENSP00000346588.4:n.4095+3G>T
ENST00000368058.5:c.4098G>T	ENSP00000357037.1:p.Val1366=
ENST00000368060.7:c.4077+3G>T	ENSP00000357039.3:n.4077+3G>T
ENST00000368068.7:c.4080G>T	ENSP00000357047.3:p.Val1360=
ENST00000479213.1:n.2205G>T
NM_001270521.1:c.4077+3G>T	NP_001257450.1:n.4077+3G>T
NM_001270522.1:c.4077+3G>T	NP_001257451.1:n.4077+3G>T
NM_004830.3:c.4080G>T	NP_004821.2:p.Val1360=
NM_015979.3:c.4095+3G>T	NP_057063.2:n.4095+3G>T
XM_005267223.1:c.4098G>T	XP_005267280.1:p.Val1366=
XM_011536257.1:c.3984G>T	XP_011534559.1:p.Val1328=
XM_005267223.3:c.4098G>T	XP_005267280.1:p.Val1366=
XM_011536257.3:c.3984G>T	XP_011534559.1:p.Val1328=
XM_017011501.1:c.3147G>T	XP_016866990.1:p.Val1049=
NM_004830.4:c.4080G>T MANE Select	NP_004821.2:p.Val1360=
NM_001270521.2:c.4077+3G>T	NP_001257450.1:n.4077+3G>T
NM_001270522.2:c.4077+3G>T	NP_001257451.1:n.4077+3G>T
NM_001376517.1:c.4098G>T	NP_001363446.1:p.Val1366=
NM_001376518.1:c.4026G>T	NP_001363447.1:p.Val1342=
NM_001376519.1:c.3942G>T	NP_001363448.1:p.Val1314=
NM_001376520.1:c.3939G>T	NP_001363449.1:p.Val1313=
NM_001376521.1:c.3939+3G>T	NP_001363450.1:n.3939+3G>T
NM_001376522.1:c.3909G>T	NP_001363451.1:p.Val1303=
NM_001376523.1:c.3825G>T	NP_001363452.1:p.Val1275=
NM_001376524.1:c.3693G>T	NP_001363453.1:p.Val1231=
NM_015979.4:c.4095+3G>T	NP_057063.2:n.4095+3G>T