Canonical Allele Identifier: CA7762398

Gene: CHSY1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.101177565G>A , CM000677.2:g.101177565G>A	GRCh38
NC_000015.9:g.101717770G>A , CM000677.1:g.101717770G>A	GRCh37
NC_000015.8:g.99535293G>A	NCBI36
NG_031908.1:g.79368C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_014918.5:c.2232C>T MANE Select	NP_055733.2:p.His744=
ENST00000254190.4:c.2232C>T MANE Select	ENSP00000254190.3:p.His744=
NM_014918.4:c.2232C>T	NP_055733.2:p.His744=
ENST00000254190.3:c.2232C>T	ENSP00000254190.3:p.His744=
ENST00000543813.1:n.1485C>T
ENST00000543813.2:c.1709C>T	ENSP00000496160.1:n.1709C>T
XM_006720435.2:c.1416C>T	XP_006720498.1:p.His472=
XM_006720435.3:c.1416C>T	XP_006720498.1:p.His472=
XM_011521364.1:c.2316C>T	XP_011519666.1:p.His772=
XM_011521364.2:c.2316C>T	XP_011519666.1:p.His772=
XM_011521365.1:c.1416C>T	XP_011519667.1:p.His472=
XM_017022011.1:c.1416C>T	XP_016877500.1:p.His472=
XM_024449873.1:c.1611C>T	XP_024305641.1:p.His537=