Canonical Allele Identifier: CA339036354

Gene: FUCA1

Linked Data

• gnomAD v4: 1-23848726-C-A
• MyVariant Identifiers: chr1:g.24175216C>A (hg19) ; chr1:g.23848726C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23848726C>A , CM000663.2:g.23848726C>A	GRCh38
NC_000001.10:g.24175216C>A , CM000663.1:g.24175216C>A	GRCh37
NC_000001.9:g.24047803C>A	NCBI36
NG_013346.1:g.24644G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374479.4:c.1083G>T MANE Select	ENSP00000363603.3:p.Trp361Cys
ENST00000374479.3:c.1083G>T	ENSP00000363603.3:p.Trp361Cys
NM_000147.4:c.1083G>T	NP_000138.2:p.Trp361Cys
XM_005245821.1:c.708G>T	XP_005245878.1:p.Trp236Cys
XM_011541167.1:c.450G>T	XP_011539469.1:p.Trp150Cys
XM_005245821.3:c.708G>T	XP_005245878.1:p.Trp236Cys
XM_011541167.3:c.450G>T	XP_011539469.1:p.Trp150Cys
XM_017000905.2:c.780G>T	XP_016856394.1:p.Trp260Cys
NM_000147.5:c.1083G>T MANE Select	NP_000138.2:p.Trp361Cys
NR_174379.1:n.1261G>T
NR_174380.1:n.1310G>T
NR_174381.1:n.1149G>T
NR_174382.1:n.1546G>T