Canonical Allele Identifier: CA686348

Gene: FUCA1

Linked Data

• dbSNP Id: rs748024437
• ExAC: 1:24175145 G / A
• gnomAD v2: 1-24175145-G-A
• gnomAD v4: 1-23848655-G-A
• MyVariant Identifiers: chr1:g.24175145G>A (hg19) ; chr1:g.23848655G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23848655G>A , CM000663.2:g.23848655G>A	GRCh38
NC_000001.10:g.24175145G>A , CM000663.1:g.24175145G>A	GRCh37
NC_000001.9:g.24047732G>A	NCBI36
NG_013346.1:g.24715C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374479.4:c.1154C>T MANE Select	ENSP00000363603.3:p.Ser385Phe
ENST00000374479.3:c.1154C>T	ENSP00000363603.3:p.Ser385Phe
NM_000147.4:c.1154C>T	NP_000138.2:p.Ser385Phe
XM_005245821.1:c.779C>T	XP_005245878.1:p.Ser260Phe
XM_011541167.1:c.521C>T	XP_011539469.1:p.Ser174Phe
XM_005245821.3:c.779C>T	XP_005245878.1:p.Ser260Phe
XM_011541167.3:c.521C>T	XP_011539469.1:p.Ser174Phe
XM_017000905.2:c.851C>T	XP_016856394.1:p.Ser284Phe
NM_000147.5:c.1154C>T MANE Select	NP_000138.2:p.Ser385Phe
NR_174379.1:n.1332C>T
NR_174380.1:n.1381C>T
NR_174381.1:n.1220C>T
NR_174382.1:n.1617C>T