Canonical Allele Identifier: CA339010380
Gene: FUCA1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.24194647G>C (hg19) chr1:g.23868157G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.23868157G>C , CM000663.2:g.23868157G>C GRCh38
NC_000001.10:g.24194647G>C , CM000663.1:g.24194647G>C GRCh37
NC_000001.9:g.24067234G>C NCBI36
NG_013346.1:g.5213C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000374479.4:c.130C>G MANE Select ENSP00000363603.3:p.Leu44Val
ENST00000374479.3:c.130C>G ENSP00000363603.3:p.Leu44Val
NM_000147.4:c.130C>G NP_000138.2:p.Leu44Val
XM_005245821.1:c.-420C>G XP_005245878.1:n.-420C>G
XM_005245821.3:c.-420C>G XP_005245878.1:n.-420C>G
NM_000147.5:c.130C>G MANE Select NP_000138.2:p.Leu44Val
NR_174379.1:n.134C>G
NR_174380.1:n.134C>G
NR_174381.1:n.134C>G
NR_174382.1:n.134C>G
Search 100 bp 5'
Search 100 bp 3'