Canonical Allele Identifier: CA339009026
Gene: FUCA1 HGNC NCBI

Linked Data

dbSNP Id: rs1178066635
MyVariant Identifiers: chr1:g.24194467C>G (hg19) chr1:g.23867977C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.23867977C>G , CM000663.2:g.23867977C>G GRCh38
NC_000001.10:g.24194467C>G , CM000663.1:g.24194467C>G GRCh37
NC_000001.9:g.24067054C>G NCBI36
NG_013346.1:g.5393G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000374479.4:c.310G>C MANE Select ENSP00000363603.3:p.Ala104Pro
ENST00000374479.3:c.310G>C ENSP00000363603.3:p.Ala104Pro
NM_000147.4:c.310G>C NP_000138.2:p.Ala104Pro
XM_005245821.1:c.-240G>C XP_005245878.1:n.-240G>C
XM_005245821.3:c.-240G>C XP_005245878.1:n.-240G>C
NM_000147.5:c.310G>C MANE Select NP_000138.2:p.Ala104Pro
NR_174379.1:n.314G>C
NR_174380.1:n.314G>C
NR_174381.1:n.314G>C
NR_174382.1:n.314G>C
Search 100 bp 5'
Search 100 bp 3'