Canonical Allele Identifier: CA416626835

Gene: FUCA1

Linked Data

• gnomAD v4: 1-23848753-T-C
• MyVariant Identifiers: chr1:g.24175243T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23848753T>C , CM000663.2:g.23848753T>C	GRCh38
NC_000001.10:g.24175243T>C , CM000663.1:g.24175243T>C	GRCh37
NC_000001.9:g.24047830T>C	NCBI36
NG_013346.1:g.24617A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374479.4:c.1056A>G MANE Select	ENSP00000363603.3:p.Gln352=
ENST00000374479.3:c.1056A>G	ENSP00000363603.3:p.Gln352=
NM_000147.4:c.1056A>G	NP_000138.2:p.Gln352=
XM_005245821.1:c.681A>G	XP_005245878.1:p.Gln227=
XM_011541167.1:c.423A>G	XP_011539469.1:p.Gln141=
XM_005245821.3:c.681A>G	XP_005245878.1:p.Gln227=
XM_011541167.3:c.423A>G	XP_011539469.1:p.Gln141=
XM_017000905.2:c.753A>G	XP_016856394.1:p.Gln251=
NM_000147.5:c.1056A>G MANE Select	NP_000138.2:p.Gln352=
NR_174379.1:n.1234A>G
NR_174380.1:n.1283A>G
NR_174381.1:n.1122A>G
NR_174382.1:n.1519A>G