Canonical Allele Identifier: CA416605299

Gene: FUCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23865526A>G , CM000663.2:g.23865526A>G	GRCh38
NC_000001.10:g.24192016A>G , CM000663.1:g.24192016A>G	GRCh37
NC_000001.9:g.24064603A>G	NCBI36
NG_013346.1:g.7844T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000147.5:c.489T>C MANE Select	NP_000138.2:p.Asp163=
ENST00000374479.4:c.489T>C MANE Select	ENSP00000363603.3:p.Asp163=
NM_000147.4:c.489T>C	NP_000138.2:p.Asp163=
NR_174379.1:n.667T>C
NR_174380.1:n.716T>C
NR_174381.1:n.555T>C
NR_174382.1:n.952T>C
ENST00000374479.3:c.489T>C	ENSP00000363603.3:p.Asp163=
XM_005245821.1:c.114T>C	XP_005245878.1:p.Asp38=
XM_005245821.3:c.114T>C	XP_005245878.1:p.Asp38=
XM_011541167.1:c.-145T>C	XP_011539469.1:n.-145T>C
XM_011541167.3:c.-145T>C	XP_011539469.1:n.-145T>C
XM_017000905.2:c.186T>C	XP_016856394.1:p.Asp62=