Canonical Allele Identifier: CA339008757
Gene: FUCA1 HGNC NCBI

Linked Data

gnomAD v4: 1-23867937-G-T
MyVariant Identifiers: chr1:g.24194427G>T (hg19) chr1:g.23867937G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.23867937G>T , CM000663.2:g.23867937G>T GRCh38
NC_000001.10:g.24194427G>T , CM000663.1:g.24194427G>T GRCh37
NC_000001.9:g.24067014G>T NCBI36
NG_013346.1:g.5433C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000374479.4:c.350C>A MANE Select ENSP00000363603.3:p.Pro117Gln
ENST00000374479.3:c.350C>A ENSP00000363603.3:p.Pro117Gln
NM_000147.4:c.350C>A NP_000138.2:p.Pro117Gln
XM_005245821.1:c.-200C>A XP_005245878.1:n.-200C>A
XM_005245821.3:c.-200C>A XP_005245878.1:n.-200C>A
NM_000147.5:c.350C>A MANE Select NP_000138.2:p.Pro117Gln
NR_174379.1:n.354C>A
NR_174380.1:n.354C>A
NR_174381.1:n.354C>A
NR_174382.1:n.354C>A
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