Canonical Allele Identifier: CA339009311
Gene: FUCA1 HGNC NCBI

Linked Data

gnomAD v4: 1-23868018-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.23868018T>C , CM000663.2:g.23868018T>C GRCh38
NC_000001.10:g.24194508T>C , CM000663.1:g.24194508T>C GRCh37
NC_000001.9:g.24067095T>C NCBI36
NG_013346.1:g.5352A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000374479.4:c.269A>G MANE Select ENSP00000363603.3:p.Gln90Arg
ENST00000374479.3:c.269A>G ENSP00000363603.3:p.Gln90Arg
NM_000147.4:c.269A>G NP_000138.2:p.Gln90Arg
XM_005245821.1:c.-281A>G XP_005245878.1:n.-281A>G
XM_005245821.3:c.-281A>G XP_005245878.1:n.-281A>G
NM_000147.5:c.269A>G MANE Select NP_000138.2:p.Gln90Arg
NR_174379.1:n.273A>G
NR_174380.1:n.273A>G
NR_174381.1:n.273A>G
NR_174382.1:n.273A>G