Canonical Allele Identifier: CA339036644

Gene: FUCA1

Linked Data

• MyVariant Identifiers: chr1:g.24175268T>A (hg19) ; chr1:g.23848778T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23848778T>A , CM000663.2:g.23848778T>A	GRCh38
NC_000001.10:g.24175268T>A , CM000663.1:g.24175268T>A	GRCh37
NC_000001.9:g.24047855T>A	NCBI36
NG_013346.1:g.24592A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374479.4:c.1031A>T MANE Select	ENSP00000363603.3:p.Asp344Val
ENST00000374479.3:c.1031A>T	ENSP00000363603.3:p.Asp344Val
NM_000147.4:c.1031A>T	NP_000138.2:p.Asp344Val
XM_005245821.1:c.656A>T	XP_005245878.1:p.Asp219Val
XM_011541167.1:c.398A>T	XP_011539469.1:p.Asp133Val
XM_005245821.3:c.656A>T	XP_005245878.1:p.Asp219Val
XM_011541167.3:c.398A>T	XP_011539469.1:p.Asp133Val
XM_017000905.2:c.728A>T	XP_016856394.1:p.Asp243Val
NM_000147.5:c.1031A>T MANE Select	NP_000138.2:p.Asp344Val
NR_174379.1:n.1209A>T
NR_174380.1:n.1258A>T
NR_174381.1:n.1097A>T
NR_174382.1:n.1494A>T