Canonical Allele Identifier: CA339007661

Gene: FUCA1

Linked Data

• gnomAD v4: 1-23865580-C-A
• MyVariant Identifiers: chr1:g.24192070C>A (hg19) ; chr1:g.23865580C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23865580C>A , CM000663.2:g.23865580C>A	GRCh38
NC_000001.10:g.24192070C>A , CM000663.1:g.24192070C>A	GRCh37
NC_000001.9:g.24064657C>A	NCBI36
NG_013346.1:g.7790G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374479.4:c.435G>T MANE Select	ENSP00000363603.3:p.Trp145Cys
ENST00000374479.3:c.435G>T	ENSP00000363603.3:p.Trp145Cys
NM_000147.4:c.435G>T	NP_000138.2:p.Trp145Cys
XM_005245821.1:c.60G>T	XP_005245878.1:p.Trp20Cys
XM_011541167.1:c.-199G>T	XP_011539469.1:n.-199G>T
XM_005245821.3:c.60G>T	XP_005245878.1:p.Trp20Cys
XM_011541167.3:c.-199G>T	XP_011539469.1:n.-199G>T
XM_017000905.2:c.132G>T	XP_016856394.1:p.Trp44Cys
NM_000147.5:c.435G>T MANE Select	NP_000138.2:p.Trp145Cys
NR_174379.1:n.613G>T
NR_174380.1:n.662G>T
NR_174381.1:n.501G>T
NR_174382.1:n.898G>T