Canonical Allele Identifier: CA416691080
Gene: FUCA1 HGNC NCBI

Linked Data

gnomAD v4: 1-23867930-C-T
MyVariant Identifiers: chr1:g.24194420C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.23867930C>T , CM000663.2:g.23867930C>T GRCh38
NC_000001.10:g.24194420C>T , CM000663.1:g.24194420C>T GRCh37
NC_000001.9:g.24067007C>T NCBI36
NG_013346.1:g.5440G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000374479.4:c.357G>A MANE Select ENSP00000363603.3:p.Glu119=
ENST00000374479.3:c.357G>A ENSP00000363603.3:p.Glu119=
NM_000147.4:c.357G>A NP_000138.2:p.Glu119=
XM_005245821.1:c.-193G>A XP_005245878.1:n.-193G>A
XM_005245821.3:c.-193G>A XP_005245878.1:n.-193G>A
NM_000147.5:c.357G>A MANE Select NP_000138.2:p.Glu119=
NR_174379.1:n.361G>A
NR_174380.1:n.361G>A
NR_174381.1:n.361G>A
NR_174382.1:n.361G>A
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