Canonical Allele Identifier: CA339035993

Gene: FUCA1

Linked Data

• gnomAD v4: 1-23848682-C-A
• MyVariant Identifiers: chr1:g.24175172C>A (hg19) ; chr1:g.23848682C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23848682C>A , CM000663.2:g.23848682C>A	GRCh38
NC_000001.10:g.24175172C>A , CM000663.1:g.24175172C>A	GRCh37
NC_000001.9:g.24047759C>A	NCBI36
NG_013346.1:g.24688G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000374479.4:c.1127G>T MANE Select	ENSP00000363603.3:p.Arg376Leu
ENST00000374479.3:c.1127G>T	ENSP00000363603.3:p.Arg376Leu
NM_000147.4:c.1127G>T	NP_000138.2:p.Arg376Leu
XM_005245821.1:c.752G>T	XP_005245878.1:p.Arg251Leu
XM_011541167.1:c.494G>T	XP_011539469.1:p.Arg165Leu
XM_005245821.3:c.752G>T	XP_005245878.1:p.Arg251Leu
XM_011541167.3:c.494G>T	XP_011539469.1:p.Arg165Leu
XM_017000905.2:c.824G>T	XP_016856394.1:p.Arg275Leu
NM_000147.5:c.1127G>T MANE Select	NP_000138.2:p.Arg376Leu
NR_174379.1:n.1305G>T
NR_174380.1:n.1354G>T
NR_174381.1:n.1193G>T
NR_174382.1:n.1590G>T