Canonical Allele Identifier: CA416626814
Gene: FUCA1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.24175222C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.23848732C>G , CM000663.2:g.23848732C>G GRCh38
NC_000001.10:g.24175222C>G , CM000663.1:g.24175222C>G GRCh37
NC_000001.9:g.24047809C>G NCBI36
NG_013346.1:g.24638G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000374479.4:c.1077G>C MANE Select ENSP00000363603.3:p.Gly359=
ENST00000374479.3:c.1077G>C ENSP00000363603.3:p.Gly359=
NM_000147.4:c.1077G>C NP_000138.2:p.Gly359=
XM_005245821.1:c.702G>C XP_005245878.1:p.Gly234=
XM_011541167.1:c.444G>C XP_011539469.1:p.Gly148=
XM_005245821.3:c.702G>C XP_005245878.1:p.Gly234=
XM_011541167.3:c.444G>C XP_011539469.1:p.Gly148=
XM_017000905.2:c.774G>C XP_016856394.1:p.Gly258=
NM_000147.5:c.1077G>C MANE Select NP_000138.2:p.Gly359=
NR_174379.1:n.1255G>C
NR_174380.1:n.1304G>C
NR_174381.1:n.1143G>C
NR_174382.1:n.1540G>C