Canonical Allele Identifier: CA686600

Gene: FUCA1

Linked Data

• dbSNP Id: rs747359126
• ExAC: 1:24194543 C / A
• gnomAD v2: 1-24194543-C-A
• MyVariant Identifiers: chr1:g.24194543C>A (hg19) ; chr1:g.23868053C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23868053C>A , CM000663.2:g.23868053C>A	GRCh38
NC_000001.10:g.24194543C>A , CM000663.1:g.24194543C>A	GRCh37
NC_000001.9:g.24067130C>A	NCBI36
NG_013346.1:g.5317G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374479.4:c.234G>T MANE Select	ENSP00000363603.3:p.Trp78Cys
ENST00000374479.3:c.234G>T	ENSP00000363603.3:p.Trp78Cys
NM_000147.4:c.234G>T	NP_000138.2:p.Trp78Cys
XM_005245821.1:c.-316G>T	XP_005245878.1:n.-316G>T
XM_005245821.3:c.-316G>T	XP_005245878.1:n.-316G>T
NM_000147.5:c.234G>T MANE Select	NP_000138.2:p.Trp78Cys
NR_174379.1:n.238G>T
NR_174380.1:n.238G>T
NR_174381.1:n.238G>T
NR_174382.1:n.238G>T