Canonical Allele Identifier: CA339010403

Gene: FUCA1

Linked Data

• gnomAD v4: 1-23868162-G-T
• MyVariant Identifiers: chr1:g.24194652G>T (hg19) ; chr1:g.23868162G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23868162G>T , CM000663.2:g.23868162G>T	GRCh38
NC_000001.10:g.24194652G>T , CM000663.1:g.24194652G>T	GRCh37
NC_000001.9:g.24067239G>T	NCBI36
NG_013346.1:g.5208C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374479.4:c.125C>A MANE Select	ENSP00000363603.3:p.Pro42Gln
ENST00000374479.3:c.125C>A	ENSP00000363603.3:p.Pro42Gln
NM_000147.4:c.125C>A	NP_000138.2:p.Pro42Gln
XM_005245821.1:c.-425C>A	XP_005245878.1:n.-425C>A
XM_005245821.3:c.-425C>A	XP_005245878.1:n.-425C>A
NM_000147.5:c.125C>A MANE Select	NP_000138.2:p.Pro42Gln
NR_174379.1:n.129C>A
NR_174380.1:n.129C>A
NR_174381.1:n.129C>A
NR_174382.1:n.129C>A