Canonical Allele Identifier: CA339008986
Gene: FUCA1 HGNC NCBI

Linked Data

gnomAD v4: 1-23867970-A-G
MyVariant Identifiers: chr1:g.24194460A>G (hg19) chr1:g.23867970A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.23867970A>G , CM000663.2:g.23867970A>G GRCh38
NC_000001.10:g.24194460A>G , CM000663.1:g.24194460A>G GRCh37
NC_000001.9:g.24067047A>G NCBI36
NG_013346.1:g.5400T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000374479.4:c.317T>C MANE Select ENSP00000363603.3:p.Phe106Ser
ENST00000374479.3:c.317T>C ENSP00000363603.3:p.Phe106Ser
NM_000147.4:c.317T>C NP_000138.2:p.Phe106Ser
XM_005245821.1:c.-233T>C XP_005245878.1:n.-233T>C
XM_005245821.3:c.-233T>C XP_005245878.1:n.-233T>C
NM_000147.5:c.317T>C MANE Select NP_000138.2:p.Phe106Ser
NR_174379.1:n.321T>C
NR_174380.1:n.321T>C
NR_174381.1:n.321T>C
NR_174382.1:n.321T>C
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