Canonical Allele Identifier: CA416605285

Gene: FUCA1

Linked Data

• dbSNP Id: rs1347120120
• gnomAD v2: 1-24191995-T-C
• gnomAD v4: 1-23865505-T-C
• MyVariant Identifiers: chr1:g.24191995T>C (hg19) ; chr1:g.23865505T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23865505T>C , CM000663.2:g.23865505T>C	GRCh38
NC_000001.10:g.24191995T>C , CM000663.1:g.24191995T>C	GRCh37
NC_000001.9:g.24064582T>C	NCBI36
NG_013346.1:g.7865A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000374479.4:c.510A>G MANE Select	ENSP00000363603.3:p.Thr170=
ENST00000374479.3:c.510A>G	ENSP00000363603.3:p.Thr170=
NM_000147.4:c.510A>G	NP_000138.2:p.Thr170=
XM_005245821.1:c.135A>G	XP_005245878.1:p.Thr45=
XM_011541167.1:c.-124A>G	XP_011539469.1:n.-124A>G
XM_005245821.3:c.135A>G	XP_005245878.1:p.Thr45=
XM_011541167.3:c.-124A>G	XP_011539469.1:n.-124A>G
XM_017000905.2:c.207A>G	XP_016856394.1:p.Thr69=
NM_000147.5:c.510A>G MANE Select	NP_000138.2:p.Thr170=
NR_174379.1:n.688A>G
NR_174380.1:n.737A>G
NR_174381.1:n.576A>G
NR_174382.1:n.973A>G