Canonical Allele Identifier: CA339010576
Gene: FUCA1 HGNC NCBI

Linked Data

dbSNP Id: rs778425491
gnomAD v4: 1-23868190-G-C
MyVariant Identifiers: chr1:g.24194680G>C (hg19) chr1:g.23868190G>C (hg38)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000374479.4:c.97C>G MANE Select ENSP00000363603.3:p.Pro33Ala
ENST00000374479.3:c.97C>G ENSP00000363603.3:p.Pro33Ala
NM_000147.4:c.97C>G NP_000138.2:p.Pro33Ala
XM_005245821.1:c.-453C>G XP_005245878.1:n.-453C>G
XM_005245821.3:c.-453C>G XP_005245878.1:n.-453C>G
NM_000147.5:c.97C>G MANE Select NP_000138.2:p.Pro33Ala
NR_174379.1:n.101C>G
NR_174380.1:n.101C>G
NR_174381.1:n.101C>G
NR_174382.1:n.101C>G
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