Canonical Allele Identifier: CA686623

Gene: FUCA1

Linked Data

• dbSNP Id: rs749337153
• ExAC: 1:24194682 T / C
• gnomAD v2: 1-24194682-T-C
• gnomAD v3: 1-23868192-T-C
• gnomAD v4: 1-23868192-T-C
• MyVariant Identifiers: chr1:g.24194682T>C (hg19) ; chr1:g.23868192T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23868192T>C , CM000663.2:g.23868192T>C	GRCh38
NC_000001.10:g.24194682T>C , CM000663.1:g.24194682T>C	GRCh37
NC_000001.9:g.24067269T>C	NCBI36
NG_013346.1:g.5178A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000374479.4:c.95A>G MANE Select	ENSP00000363603.3:p.Gln32Arg
ENST00000374479.3:c.95A>G	ENSP00000363603.3:p.Gln32Arg
NM_000147.4:c.95A>G	NP_000138.2:p.Gln32Arg
XM_005245821.1:c.-455A>G	XP_005245878.1:n.-455A>G
XM_005245821.3:c.-455A>G	XP_005245878.1:n.-455A>G
NM_000147.5:c.95A>G MANE Select	NP_000138.2:p.Gln32Arg
NR_174379.1:n.99A>G
NR_174380.1:n.99A>G
NR_174381.1:n.99A>G
NR_174382.1:n.99A>G