Canonical Allele Identifier: CA393959897

Gene: CHSY1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.101178197T>G , CM000677.2:g.101178197T>G	GRCh38
NC_000015.9:g.101718402T>G , CM000677.1:g.101718402T>G	GRCh37
NC_000015.8:g.99535925T>G	NCBI36
NG_031908.1:g.78736A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_014918.5:c.1600A>C MANE Select	NP_055733.2:p.Ile534Leu
ENST00000254190.4:c.1600A>C MANE Select	ENSP00000254190.3:p.Ile534Leu
NM_014918.4:c.1600A>C	NP_055733.2:p.Ile534Leu
ENST00000254190.3:c.1600A>C	ENSP00000254190.3:p.Ile534Leu
ENST00000543813.1:n.853A>C
ENST00000543813.2:c.1077A>C	ENSP00000496160.1:n.1077A>C
XM_006720435.2:c.784A>C	XP_006720498.1:p.Ile262Leu
XM_006720435.3:c.784A>C	XP_006720498.1:p.Ile262Leu
XM_011521364.1:c.1684A>C	XP_011519666.1:p.Ile562Leu
XM_011521364.2:c.1684A>C	XP_011519666.1:p.Ile562Leu
XM_011521365.1:c.784A>C	XP_011519667.1:p.Ile262Leu
XM_017022011.1:c.784A>C	XP_016877500.1:p.Ile262Leu
XM_024449873.1:c.979A>C	XP_024305641.1:p.Ile327Leu