Canonical Allele Identifier: CA339036645

Gene: FUCA1

Linked Data

• MyVariant Identifiers: chr1:g.24175269C>A (hg19) ; chr1:g.23848779C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23848779C>A , CM000663.2:g.23848779C>A	GRCh38
NC_000001.10:g.24175269C>A , CM000663.1:g.24175269C>A	GRCh37
NC_000001.9:g.24047856C>A	NCBI36
NG_013346.1:g.24591G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000374479.4:c.1030G>T MANE Select	ENSP00000363603.3:p.Asp344Tyr
ENST00000374479.3:c.1030G>T	ENSP00000363603.3:p.Asp344Tyr
NM_000147.4:c.1030G>T	NP_000138.2:p.Asp344Tyr
XM_005245821.1:c.655G>T	XP_005245878.1:p.Asp219Tyr
XM_011541167.1:c.397G>T	XP_011539469.1:p.Asp133Tyr
XM_005245821.3:c.655G>T	XP_005245878.1:p.Asp219Tyr
XM_011541167.3:c.397G>T	XP_011539469.1:p.Asp133Tyr
XM_017000905.2:c.727G>T	XP_016856394.1:p.Asp243Tyr
NM_000147.5:c.1030G>T MANE Select	NP_000138.2:p.Asp344Tyr
NR_174379.1:n.1208G>T
NR_174380.1:n.1257G>T
NR_174381.1:n.1096G>T
NR_174382.1:n.1493G>T