Canonical Allele Identifier: CA686622
Gene: FUCA1 HGNC NCBI

Linked Data

dbSNP Id: rs778425491
ExAC: 1:24194680 G / T
gnomAD v2: 1-24194680-G-T
gnomAD v4: 1-23868190-G-T
MyVariant Identifiers: chr1:g.24194680G>T (hg19) chr1:g.23868190G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.23868190G>T , CM000663.2:g.23868190G>T GRCh38
NC_000001.10:g.24194680G>T , CM000663.1:g.24194680G>T GRCh37
NC_000001.9:g.24067267G>T NCBI36
NG_013346.1:g.5180C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000374479.4:c.97C>A MANE Select ENSP00000363603.3:p.Pro33Thr
ENST00000374479.3:c.97C>A ENSP00000363603.3:p.Pro33Thr
NM_000147.4:c.97C>A NP_000138.2:p.Pro33Thr
XM_005245821.1:c.-453C>A XP_005245878.1:n.-453C>A
XM_005245821.3:c.-453C>A XP_005245878.1:n.-453C>A
NM_000147.5:c.97C>A MANE Select NP_000138.2:p.Pro33Thr
NR_174379.1:n.101C>A
NR_174380.1:n.101C>A
NR_174381.1:n.101C>A
NR_174382.1:n.101C>A
Search 100 bp 5'
Search 100 bp 3'