Canonical Allele Identifier: CA339035913

Gene: FUCA1

Linked Data

• MyVariant Identifiers: chr1:g.24175159T>A (hg19) ; chr1:g.23848669T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23848669T>A , CM000663.2:g.23848669T>A	GRCh38
NC_000001.10:g.24175159T>A , CM000663.1:g.24175159T>A	GRCh37
NC_000001.9:g.24047746T>A	NCBI36
NG_013346.1:g.24701A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374479.4:c.1140A>T MANE Select	ENSP00000363603.3:p.Glu380Asp
ENST00000374479.3:c.1140A>T	ENSP00000363603.3:p.Glu380Asp
NM_000147.4:c.1140A>T	NP_000138.2:p.Glu380Asp
XM_005245821.1:c.765A>T	XP_005245878.1:p.Glu255Asp
XM_011541167.1:c.507A>T	XP_011539469.1:p.Glu169Asp
XM_005245821.3:c.765A>T	XP_005245878.1:p.Glu255Asp
XM_011541167.3:c.507A>T	XP_011539469.1:p.Glu169Asp
XM_017000905.2:c.837A>T	XP_016856394.1:p.Glu279Asp
NM_000147.5:c.1140A>T MANE Select	NP_000138.2:p.Glu380Asp
NR_174379.1:n.1318A>T
NR_174380.1:n.1367A>T
NR_174381.1:n.1206A>T
NR_174382.1:n.1603A>T