Canonical Allele Identifier: CA686556

Gene: FUCA1

Linked Data

• dbSNP Id: rs748079436
• ExAC: 1:24192113 T / C
• gnomAD v2: 1-24192113-T-C
• gnomAD v3: 1-23865623-T-C
• gnomAD v4: 1-23865623-T-C
• COSMIC: COSM6045150
• MyVariant Identifiers: chr1:g.24192113T>C (hg19) ; chr1:g.23865623T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23865623T>C , CM000663.2:g.23865623T>C	GRCh38
NC_000001.10:g.24192113T>C , CM000663.1:g.24192113T>C	GRCh37
NC_000001.9:g.24064700T>C	NCBI36
NG_013346.1:g.7747A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374479.4:c.392A>G MANE Select	ENSP00000363603.3:p.Tyr131Cys
ENST00000374479.3:c.392A>G	ENSP00000363603.3:p.Tyr131Cys
NM_000147.4:c.392A>G	NP_000138.2:p.Tyr131Cys
XM_005245821.1:c.17A>G	XP_005245878.1:p.Tyr6Cys
XM_011541167.1:c.-242A>G	XP_011539469.1:n.-242A>G
XM_005245821.3:c.17A>G	XP_005245878.1:p.Tyr6Cys
XM_011541167.3:c.-242A>G	XP_011539469.1:n.-242A>G
XM_017000905.2:c.89A>G	XP_016856394.1:p.Tyr30Cys
NM_000147.5:c.392A>G MANE Select	NP_000138.2:p.Tyr131Cys
NR_174379.1:n.570A>G
NR_174380.1:n.619A>G
NR_174381.1:n.458A>G
NR_174382.1:n.855A>G