Canonical Allele Identifier: CA393958937

Gene: CHSY1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.101178108C>A , CM000677.2:g.101178108C>A	GRCh38
NC_000015.9:g.101718313C>A , CM000677.1:g.101718313C>A	GRCh37
NC_000015.8:g.99535836C>A	NCBI36
NG_031908.1:g.78825G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_014918.5:c.1689G>T MANE Select	NP_055733.2:p.Gln563His
ENST00000254190.4:c.1689G>T MANE Select	ENSP00000254190.3:p.Gln563His
NM_014918.4:c.1689G>T	NP_055733.2:p.Gln563His
ENST00000254190.3:c.1689G>T	ENSP00000254190.3:p.Gln563His
ENST00000543813.1:n.942G>T
ENST00000543813.2:c.1166G>T	ENSP00000496160.1:n.1166G>T
XM_006720435.2:c.873G>T	XP_006720498.1:p.Gln291His
XM_006720435.3:c.873G>T	XP_006720498.1:p.Gln291His
XM_011521364.1:c.1773G>T	XP_011519666.1:p.Gln591His
XM_011521364.2:c.1773G>T	XP_011519666.1:p.Gln591His
XM_011521365.1:c.873G>T	XP_011519667.1:p.Gln291His
XM_017022011.1:c.873G>T	XP_016877500.1:p.Gln291His
XM_024449873.1:c.1068G>T	XP_024305641.1:p.Gln356His