Canonical Allele Identifier: CA19283772
Gene: FUCA1 HGNC NCBI

Linked Data

dbSNP Id: rs550501788
gnomAD v3: 1-23868264-G-A
gnomAD v4: 1-23868264-G-A
MyVariant Identifiers: chr1:g.24194754G>A (hg19) chr1:g.23868264G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.23868264G>A , CM000663.2:g.23868264G>A GRCh38
NC_000001.10:g.24194754G>A , CM000663.1:g.24194754G>A GRCh37
NC_000001.9:g.24067341G>A NCBI36
NG_013346.1:g.5106C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000374479.4:c.23C>T MANE Select ENSP00000363603.3:p.Ser8Leu
ENST00000374479.3:c.23C>T ENSP00000363603.3:p.Ser8Leu
NM_000147.4:c.23C>T NP_000138.2:p.Ser8Leu
XM_005245821.1:c.-527C>T XP_005245878.1:n.-527C>T
XM_005245821.3:c.-527C>T XP_005245878.1:n.-527C>T
NM_000147.5:c.23C>T MANE Select NP_000138.2:p.Ser8Leu
NR_174379.1:n.27C>T
NR_174380.1:n.27C>T
NR_174381.1:n.27C>T
NR_174382.1:n.27C>T
Search 100 bp 5'
Search 100 bp 3'