Canonical Allele Identifier: CA7762524

Gene: CHSY1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.101178329C>A , CM000677.2:g.101178329C>A	GRCh38
NC_000015.9:g.101718534C>A , CM000677.1:g.101718534C>A	GRCh37
NC_000015.8:g.99536057C>A	NCBI36
NG_031908.1:g.78604G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_014918.5:c.1468G>T MANE Select	NP_055733.2:p.Ala490Ser
ENST00000254190.4:c.1468G>T MANE Select	ENSP00000254190.3:p.Ala490Ser
NM_014918.4:c.1468G>T	NP_055733.2:p.Ala490Ser
ENST00000254190.3:c.1468G>T	ENSP00000254190.3:p.Ala490Ser
ENST00000543813.1:n.721G>T
ENST00000543813.2:c.945G>T	ENSP00000496160.1:n.945G>T
XM_006720435.2:c.652G>T	XP_006720498.1:p.Ala218Ser
XM_006720435.3:c.652G>T	XP_006720498.1:p.Ala218Ser
XM_011521364.1:c.1552G>T	XP_011519666.1:p.Ala518Ser
XM_011521364.2:c.1552G>T	XP_011519666.1:p.Ala518Ser
XM_011521365.1:c.652G>T	XP_011519667.1:p.Ala218Ser
XM_017022011.1:c.652G>T	XP_016877500.1:p.Ala218Ser
XM_024449873.1:c.847G>T	XP_024305641.1:p.Ala283Ser