Canonical Allele Identifier: CA339036523

Gene: FUCA1

Linked Data

• gnomAD v4: 1-23848748-C-T
• MyVariant Identifiers: chr1:g.24175238C>T (hg19) ; chr1:g.23848748C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23848748C>T , CM000663.2:g.23848748C>T	GRCh38
NC_000001.10:g.24175238C>T , CM000663.1:g.24175238C>T	GRCh37
NC_000001.9:g.24047825C>T	NCBI36
NG_013346.1:g.24622G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374479.4:c.1061G>A MANE Select	ENSP00000363603.3:p.Arg354Lys
ENST00000374479.3:c.1061G>A	ENSP00000363603.3:p.Arg354Lys
NM_000147.4:c.1061G>A	NP_000138.2:p.Arg354Lys
XM_005245821.1:c.686G>A	XP_005245878.1:p.Arg229Lys
XM_011541167.1:c.428G>A	XP_011539469.1:p.Arg143Lys
XM_005245821.3:c.686G>A	XP_005245878.1:p.Arg229Lys
XM_011541167.3:c.428G>A	XP_011539469.1:p.Arg143Lys
XM_017000905.2:c.758G>A	XP_016856394.1:p.Arg253Lys
NM_000147.5:c.1061G>A MANE Select	NP_000138.2:p.Arg354Lys
NR_174379.1:n.1239G>A
NR_174380.1:n.1288G>A
NR_174381.1:n.1127G>A
NR_174382.1:n.1524G>A