Canonical Allele Identifier: CA416691261
Gene: FUCA1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.24194672G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.23868182G>C , CM000663.2:g.23868182G>C GRCh38
NC_000001.10:g.24194672G>C , CM000663.1:g.24194672G>C GRCh37
NC_000001.9:g.24067259G>C NCBI36
NG_013346.1:g.5188C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000374479.4:c.105C>G MANE Select ENSP00000363603.3:p.Arg35=
ENST00000374479.3:c.105C>G ENSP00000363603.3:p.Arg35=
NM_000147.4:c.105C>G NP_000138.2:p.Arg35=
XM_005245821.1:c.-445C>G XP_005245878.1:n.-445C>G
XM_005245821.3:c.-445C>G XP_005245878.1:n.-445C>G
NM_000147.5:c.105C>G MANE Select NP_000138.2:p.Arg35=
NR_174379.1:n.109C>G
NR_174380.1:n.109C>G
NR_174381.1:n.109C>G
NR_174382.1:n.109C>G