Canonical Allele Identifier: CA339008858

Gene: FUCA1

Linked Data

• gnomAD v4: 1-23867950-G-A
• MyVariant Identifiers: chr1:g.24194440G>A (hg19) ; chr1:g.23867950G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23867950G>A , CM000663.2:g.23867950G>A	GRCh38
NC_000001.10:g.24194440G>A , CM000663.1:g.24194440G>A	GRCh37
NC_000001.9:g.24067027G>A	NCBI36
NG_013346.1:g.5420C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374479.4:c.337C>T MANE Select	ENSP00000363603.3:p.Arg113Cys
ENST00000374479.3:c.337C>T	ENSP00000363603.3:p.Arg113Cys
NM_000147.4:c.337C>T	NP_000138.2:p.Arg113Cys
XM_005245821.1:c.-213C>T	XP_005245878.1:n.-213C>T
XM_005245821.3:c.-213C>T	XP_005245878.1:n.-213C>T
NM_000147.5:c.337C>T MANE Select	NP_000138.2:p.Arg113Cys
NR_174379.1:n.341C>T
NR_174380.1:n.341C>T
NR_174381.1:n.341C>T
NR_174382.1:n.341C>T