Canonical Allele Identifier: CA339009188
Gene: FUCA1 HGNC NCBI

Linked Data

gnomAD v4: 1-23867999-G-C
MyVariant Identifiers: chr1:g.24194489G>C (hg19) chr1:g.23867999G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.23867999G>C , CM000663.2:g.23867999G>C GRCh38
NC_000001.10:g.24194489G>C , CM000663.1:g.24194489G>C GRCh37
NC_000001.9:g.24067076G>C NCBI36
NG_013346.1:g.5371C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000374479.4:c.288C>G MANE Select ENSP00000363603.3:p.Asn96Lys
ENST00000374479.3:c.288C>G ENSP00000363603.3:p.Asn96Lys
NM_000147.4:c.288C>G NP_000138.2:p.Asn96Lys
XM_005245821.1:c.-262C>G XP_005245878.1:n.-262C>G
XM_005245821.3:c.-262C>G XP_005245878.1:n.-262C>G
NM_000147.5:c.288C>G MANE Select NP_000138.2:p.Asn96Lys
NR_174379.1:n.292C>G
NR_174380.1:n.292C>G
NR_174381.1:n.292C>G
NR_174382.1:n.292C>G
Search 100 bp 5'
Search 100 bp 3'