Canonical Allele Identifier: CA8131256

Gene: HAS3

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.69109609C>T , CM000678.2:g.69109609C>T	GRCh38
NC_000016.9:g.69143512C>T , CM000678.1:g.69143512C>T	GRCh37
NC_000016.8:g.67701013C>T	NCBI36
NG_047056.1:g.9046C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001199280.2:c.214C>T MANE Select	NP_001186209.1:p.Arg72Cys
ENST00000569188.6:c.214C>T MANE Select	ENSP00000454731.1:p.Arg72Cys
NM_001199280.1:c.214C>T	NP_001186209.1:p.Arg72Cys
NM_005329.2:c.214C>T	NP_005320.2:p.Arg72Cys
NM_005329.3:c.214C>T	NP_005320.2:p.Arg72Cys
NM_138612.2:c.214C>T	NP_619515.1:p.Arg72Cys
NM_138612.3:c.214C>T	NP_619515.1:p.Arg72Cys
ENST00000219322.7:c.214C>T	ENSP00000219322.3:p.Arg72Cys
ENST00000306560.1:c.214C>T	ENSP00000304440.1:p.Arg72Cys
ENST00000566118.5:c.214C>T	ENSP00000456246.1:p.Arg72Cys
ENST00000569188.5:c.214C>T	ENSP00000454731.1:p.Arg72Cys
XM_005255921.1:c.214C>T	XP_005255978.1:p.Arg72Cys
XM_005255921.2:c.214C>T	XP_005255978.1:p.Arg72Cys
XM_011523061.1:c.214C>T	XP_011521363.1:p.Arg72Cys
XM_011523061.2:c.214C>T	XP_011521363.1:p.Arg72Cys