Canonical Allele Identifier: CA2200398395

Gene: CHSY1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.101178986A>C , CM000677.2:g.101178986A>C	GRCh38
NC_000015.9:g.101719191A>C , CM000677.1:g.101719191A>C	GRCh37
NC_000015.8:g.99536714A>C	NCBI36
NG_031908.1:g.77947T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_014918.5:c.817-6T>G MANE Select	NP_055733.2:n.817-6T>G
ENST00000254190.4:c.817-6T>G MANE Select	ENSP00000254190.3:n.817-6T>G
NM_014918.4:c.817-6T>G	NP_055733.2:n.817-6T>G
ENST00000254190.3:c.817-6T>G	ENSP00000254190.3:n.817-6T>G
ENST00000543813.1:n.70-6T>G
ENST00000543813.2:c.294-6T>G	ENSP00000496160.1:n.294-6T>G
ENST00000560766.1:n.150-6T>G
ENST00000561414.1:n.186-6T>G
XM_006720435.2:c.1-6T>G	XP_006720498.1:n.1-6T>G
XM_006720435.3:c.1-6T>G	XP_006720498.1:n.1-6T>G
XM_011521364.1:c.901-6T>G	XP_011519666.1:n.901-6T>G
XM_011521364.2:c.901-6T>G	XP_011519666.1:n.901-6T>G
XM_011521365.1:c.1-6T>G	XP_011519667.1:n.1-6T>G
XM_017022011.1:c.1-6T>G	XP_016877500.1:n.1-6T>G
XM_024449873.1:c.196-6T>G	XP_024305641.1:n.196-6T>G