Canonical Allele Identifier: CA492990991

Gene: CHSY1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.101178584A>G , CM000677.2:g.101178584A>G	GRCh38
NC_000015.9:g.101718789A>G , CM000677.1:g.101718789A>G	GRCh37
NC_000015.8:g.99536312A>G	NCBI36
NG_031908.1:g.78349T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_014918.5:c.1213T>C MANE Select	NP_055733.2:p.Leu405=
ENST00000254190.4:c.1213T>C MANE Select	ENSP00000254190.3:p.Leu405=
NM_014918.4:c.1213T>C	NP_055733.2:p.Leu405=
ENST00000254190.3:c.1213T>C	ENSP00000254190.3:p.Leu405=
ENST00000543813.1:n.466T>C
ENST00000543813.2:c.690T>C	ENSP00000496160.1:n.690T>C
ENST00000560766.1:n.546T>C
XM_006720435.2:c.397T>C	XP_006720498.1:p.Leu133=
XM_006720435.3:c.397T>C	XP_006720498.1:p.Leu133=
XM_011521364.1:c.1297T>C	XP_011519666.1:p.Leu433=
XM_011521364.2:c.1297T>C	XP_011519666.1:p.Leu433=
XM_011521365.1:c.397T>C	XP_011519667.1:p.Leu133=
XM_017022011.1:c.397T>C	XP_016877500.1:p.Leu133=
XM_024449873.1:c.592T>C	XP_024305641.1:p.Leu198=