Canonical Allele Identifier: CA339036527

Gene: FUCA1

Linked Data

• gnomAD v4: 1-23848749-T-C
• MyVariant Identifiers: chr1:g.24175239T>C (hg19) ; chr1:g.23848749T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23848749T>C , CM000663.2:g.23848749T>C	GRCh38
NC_000001.10:g.24175239T>C , CM000663.1:g.24175239T>C	GRCh37
NC_000001.9:g.24047826T>C	NCBI36
NG_013346.1:g.24621A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374479.4:c.1060A>G MANE Select	ENSP00000363603.3:p.Arg354Gly
ENST00000374479.3:c.1060A>G	ENSP00000363603.3:p.Arg354Gly
NM_000147.4:c.1060A>G	NP_000138.2:p.Arg354Gly
XM_005245821.1:c.685A>G	XP_005245878.1:p.Arg229Gly
XM_011541167.1:c.427A>G	XP_011539469.1:p.Arg143Gly
XM_005245821.3:c.685A>G	XP_005245878.1:p.Arg229Gly
XM_011541167.3:c.427A>G	XP_011539469.1:p.Arg143Gly
XM_017000905.2:c.757A>G	XP_016856394.1:p.Arg253Gly
NM_000147.5:c.1060A>G MANE Select	NP_000138.2:p.Arg354Gly
NR_174379.1:n.1238A>G
NR_174380.1:n.1287A>G
NR_174381.1:n.1126A>G
NR_174382.1:n.1523A>G