Canonical Allele Identifier: CA7762374

Gene: CHSY1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.101177445T>C , CM000677.2:g.101177445T>C	GRCh38
NC_000015.9:g.101717650T>C , CM000677.1:g.101717650T>C	GRCh37
NC_000015.8:g.99535173T>C	NCBI36
NG_031908.1:g.79488A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_014918.5:c.2352A>G MANE Select	NP_055733.2:p.Lys784=
ENST00000254190.4:c.2352A>G MANE Select	ENSP00000254190.3:p.Lys784=
NM_014918.4:c.2352A>G	NP_055733.2:p.Lys784=
ENST00000254190.3:c.2352A>G	ENSP00000254190.3:p.Lys784=
ENST00000543813.1:n.1605A>G
ENST00000543813.2:c.1829A>G	ENSP00000496160.1:n.1829A>G
XM_006720435.2:c.1536A>G	XP_006720498.1:p.Lys512=
XM_006720435.3:c.1536A>G	XP_006720498.1:p.Lys512=
XM_011521364.1:c.2436A>G	XP_011519666.1:p.Lys812=
XM_011521364.2:c.2436A>G	XP_011519666.1:p.Lys812=
XM_011521365.1:c.1536A>G	XP_011519667.1:p.Lys512=
XM_017022011.1:c.1536A>G	XP_016877500.1:p.Lys512=
XM_024449873.1:c.1731A>G	XP_024305641.1:p.Lys577=