Canonical Allele Identifier: CA416691125
Gene: FUCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2093715
ClinVar RCV Id: RCV003020976
dbSNP Id: rs1189226253
gnomAD v2: 1-24194462-G-A
gnomAD v4: 1-23867972-G-A
MyVariant Identifiers: chr1:g.24194462G>A (hg19) chr1:g.23867972G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.23867972G>A , CM000663.2:g.23867972G>A GRCh38
NC_000001.10:g.24194462G>A , CM000663.1:g.24194462G>A GRCh37
NC_000001.9:g.24067049G>A NCBI36
NG_013346.1:g.5398C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000374479.4:c.315C>T MANE Select ENSP00000363603.3:p.Asp105=
ENST00000374479.3:c.315C>T ENSP00000363603.3:p.Asp105=
NM_000147.4:c.315C>T NP_000138.2:p.Asp105=
XM_005245821.1:c.-235C>T XP_005245878.1:n.-235C>T
XM_005245821.3:c.-235C>T XP_005245878.1:n.-235C>T
NM_000147.5:c.315C>T MANE Select NP_000138.2:p.Asp105=
NR_174379.1:n.319C>T
NR_174380.1:n.319C>T
NR_174381.1:n.319C>T
NR_174382.1:n.319C>T
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