Canonical Allele Identifier: CA7762387

Gene: CHSY1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.101177490C>T , CM000677.2:g.101177490C>T	GRCh38
NC_000015.9:g.101717695C>T , CM000677.1:g.101717695C>T	GRCh37
NC_000015.8:g.99535218C>T	NCBI36
NG_031908.1:g.79443G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_014918.5:c.2307G>A MANE Select	NP_055733.2:p.Ser769=
ENST00000254190.4:c.2307G>A MANE Select	ENSP00000254190.3:p.Ser769=
NM_014918.4:c.2307G>A	NP_055733.2:p.Ser769=
ENST00000254190.3:c.2307G>A	ENSP00000254190.3:p.Ser769=
ENST00000543813.1:n.1560G>A
ENST00000543813.2:c.1784G>A	ENSP00000496160.1:n.1784G>A
XM_006720435.2:c.1491G>A	XP_006720498.1:p.Ser497=
XM_006720435.3:c.1491G>A	XP_006720498.1:p.Ser497=
XM_011521364.1:c.2391G>A	XP_011519666.1:p.Ser797=
XM_011521364.2:c.2391G>A	XP_011519666.1:p.Ser797=
XM_011521365.1:c.1491G>A	XP_011519667.1:p.Ser497=
XM_017022011.1:c.1491G>A	XP_016877500.1:p.Ser497=
XM_024449873.1:c.1686G>A	XP_024305641.1:p.Ser562=