Canonical Allele Identifier: CA7762433
Community Standard Title: NM_014918.5(CHSY1):c.1957C>G (p.Gln653Glu)
Gene: CHSY1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.101177840G>C , CM000677.2:g.101177840G>C GRCh38
NC_000015.9:g.101718045G>C , CM000677.1:g.101718045G>C GRCh37
NC_000015.8:g.99535568G>C NCBI36
NG_031908.1:g.79093C>G

Transcript Alleles

HGVS Amino-acid Change
NM_014918.5:c.1957C>G MANE Select NP_055733.2:p.Gln653Glu
ENST00000254190.4:c.1957C>G MANE Select ENSP00000254190.3:p.Gln653Glu
NM_014918.4:c.1957C>G NP_055733.2:p.Gln653Glu
ENST00000254190.3:c.1957C>G ENSP00000254190.3:p.Gln653Glu
ENST00000543813.1:n.1210C>G
ENST00000543813.2:c.1434C>G ENSP00000496160.1:n.1434C>G
XM_006720435.2:c.1141C>G XP_006720498.1:p.Gln381Glu
XM_006720435.3:c.1141C>G XP_006720498.1:p.Gln381Glu
XM_011521364.1:c.2041C>G XP_011519666.1:p.Gln681Glu
XM_011521364.2:c.2041C>G XP_011519666.1:p.Gln681Glu
XM_011521365.1:c.1141C>G XP_011519667.1:p.Gln381Glu
XM_017022011.1:c.1141C>G XP_016877500.1:p.Gln381Glu
XM_024449873.1:c.1336C>G XP_024305641.1:p.Gln446Glu