Canonical Allele Identifier: CA686578
Gene: FUCA1 HGNC NCBI

Linked Data

dbSNP Id: rs748760925
ExAC: 1:24194429 G / A
gnomAD v2: 1-24194429-G-A
gnomAD v4: 1-23867939-G-A
MyVariant Identifiers: chr1:g.24194429G>A (hg19) chr1:g.23867939G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.23867939G>A , CM000663.2:g.23867939G>A GRCh38
NC_000001.10:g.24194429G>A , CM000663.1:g.24194429G>A GRCh37
NC_000001.9:g.24067016G>A NCBI36
NG_013346.1:g.5431C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000374479.4:c.348C>T MANE Select ENSP00000363603.3:p.His116=
ENST00000374479.3:c.348C>T ENSP00000363603.3:p.His116=
NM_000147.4:c.348C>T NP_000138.2:p.His116=
XM_005245821.1:c.-202C>T XP_005245878.1:n.-202C>T
XM_005245821.3:c.-202C>T XP_005245878.1:n.-202C>T
NM_000147.5:c.348C>T MANE Select NP_000138.2:p.His116=
NR_174379.1:n.352C>T
NR_174380.1:n.352C>T
NR_174381.1:n.352C>T
NR_174382.1:n.352C>T
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