Canonical Allele Identifier: CA2644083820
Gene: FUCA1 HGNC NCBI

Linked Data

gnomAD v4: 1-23848585-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.23848585A>C , CM000663.2:g.23848585A>C GRCh38
NC_000001.10:g.24175075A>C , CM000663.1:g.24175075A>C GRCh37
NC_000001.9:g.24047662A>C NCBI36
NG_013346.1:g.24785T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000374479.4:c.1160+64T>G MANE Select ENSP00000363603.3:n.1160+64T>G
ENST00000374479.3:c.1160+64T>G ENSP00000363603.3:n.1160+64T>G
NM_000147.4:c.1160+64T>G NP_000138.2:n.1160+64T>G
XM_005245821.1:c.785+64T>G XP_005245878.1:n.785+64T>G
XM_011541167.1:c.527+64T>G XP_011539469.1:n.527+64T>G
XM_005245821.3:c.785+64T>G XP_005245878.1:n.785+64T>G
XM_011541167.3:c.527+64T>G XP_011539469.1:n.527+64T>G
XM_017000905.2:c.857+64T>G XP_016856394.1:n.857+64T>G
NM_000147.5:c.1160+64T>G MANE Select NP_000138.2:n.1160+64T>G
NR_174379.1:n.1338+64T>G
NR_174380.1:n.1387+64T>G
NR_174381.1:n.1226+64T>G
NR_174382.1:n.1623+64T>G