Canonical Allele Identifier: CA686549

Gene: FUCA1

Linked Data

• dbSNP Id: rs764209760
• ExAC: 1:24192084 C / T
• gnomAD v2: 1-24192084-C-T
• gnomAD v3: 1-23865594-C-T
• gnomAD v4: 1-23865594-C-T
• MyVariant Identifiers: chr1:g.24192084C>T (hg19) ; chr1:g.23865594C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23865594C>T , CM000663.2:g.23865594C>T	GRCh38
NC_000001.10:g.24192084C>T , CM000663.1:g.24192084C>T	GRCh37
NC_000001.9:g.24064671C>T	NCBI36
NG_013346.1:g.7776G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000374479.4:c.421G>A MANE Select	ENSP00000363603.3:p.Gly141Ser
ENST00000374479.3:c.421G>A	ENSP00000363603.3:p.Gly141Ser
NM_000147.4:c.421G>A	NP_000138.2:p.Gly141Ser
XM_005245821.1:c.46G>A	XP_005245878.1:p.Gly16Ser
XM_011541167.1:c.-213G>A	XP_011539469.1:n.-213G>A
XM_005245821.3:c.46G>A	XP_005245878.1:p.Gly16Ser
XM_011541167.3:c.-213G>A	XP_011539469.1:n.-213G>A
XM_017000905.2:c.118G>A	XP_016856394.1:p.Gly40Ser
NM_000147.5:c.421G>A MANE Select	NP_000138.2:p.Gly141Ser
NR_174379.1:n.599G>A
NR_174380.1:n.648G>A
NR_174381.1:n.487G>A
NR_174382.1:n.884G>A