Canonical Allele Identifier: CA10609890
Gene: FUCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 296894
ClinVar RCV Id: RCV000267465
dbSNP Id: rs886046326
gnomAD v2: 1-24194747-C-G
gnomAD v4: 1-23868257-C-G
MyVariant Identifiers: chr1:g.24194747C>G (hg19) chr1:g.23868257C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.23868257C>G , CM000663.2:g.23868257C>G GRCh38
NC_000001.10:g.24194747C>G , CM000663.1:g.24194747C>G GRCh37
NC_000001.9:g.24067334C>G NCBI36
NG_013346.1:g.5113G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000374479.4:c.30G>C MANE Select ENSP00000363603.3:p.Pro10=
ENST00000374479.3:c.30G>C ENSP00000363603.3:p.Pro10=
NM_000147.4:c.30G>C NP_000138.2:p.Pro10=
XM_005245821.1:c.-520G>C XP_005245878.1:n.-520G>C
XM_005245821.3:c.-520G>C XP_005245878.1:n.-520G>C
NM_000147.5:c.30G>C MANE Select NP_000138.2:p.Pro10=
NR_174379.1:n.34G>C
NR_174380.1:n.34G>C
NR_174381.1:n.34G>C
NR_174382.1:n.34G>C
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