Canonical Allele Identifier: CA365665430

Gene: MED23

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.131596633A>G , CM000668.2:g.131596633A>G	GRCh38
NC_000006.11:g.131917773A>G , CM000668.1:g.131917773A>G	GRCh37
NC_000006.10:g.131959466A>G	NCBI36
NG_031860.1:g.36591T>C
NG_031860.2:g.36591T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_004830.4:c.2663T>C MANE Select	NP_004821.2:p.Leu888Ser
ENST00000368068.8:c.2663T>C MANE Select	ENSP00000357047.3:p.Leu888Ser
NM_001270521.1:c.2663T>C	NP_001257450.1:p.Leu888Ser
NM_001270521.2:c.2663T>C	NP_001257450.1:p.Leu888Ser
NM_001270522.1:c.2663T>C	NP_001257451.1:p.Leu888Ser
NM_001270522.2:c.2663T>C	NP_001257451.1:p.Leu888Ser
NM_001376517.1:c.2681T>C	NP_001363446.1:p.Leu894Ser
NM_001376518.1:c.2609T>C	NP_001363447.1:p.Leu870Ser
NM_001376519.1:c.2640+23T>C	NP_001363448.1:n.2640+23T>C
NM_001376520.1:c.2522T>C	NP_001363449.1:p.Leu841Ser
NM_001376521.1:c.2640+23T>C	NP_001363450.1:n.2640+23T>C
NM_001376522.1:c.2608-470T>C	NP_001363451.1:n.2608-470T>C
NM_001376523.1:c.2408T>C	NP_001363452.1:p.Leu803Ser
NM_001376524.1:c.2276T>C	NP_001363453.1:p.Leu759Ser
NM_004830.3:c.2663T>C	NP_004821.2:p.Leu888Ser
NM_015979.3:c.2681T>C	NP_057063.2:p.Leu894Ser
NM_015979.4:c.2681T>C	NP_057063.2:p.Leu894Ser
ENST00000354577.8:c.2681T>C	ENSP00000346588.4:p.Leu894Ser
ENST00000368058.5:c.2681T>C	ENSP00000357037.1:p.Leu894Ser
ENST00000368060.7:c.2663T>C	ENSP00000357039.3:p.Leu888Ser
ENST00000368068.7:c.2663T>C	ENSP00000357047.3:p.Leu888Ser
XM_005267223.1:c.2681T>C	XP_005267280.1:p.Leu894Ser
XM_005267223.3:c.2681T>C	XP_005267280.1:p.Leu894Ser
XM_011536257.1:c.2567T>C	XP_011534559.1:p.Leu856Ser
XM_011536257.3:c.2567T>C	XP_011534559.1:p.Leu856Ser
XM_017011501.1:c.1730T>C	XP_016866990.1:p.Leu577Ser