Canonical Allele Identifier: CA416626748

Gene: FUCA1

Linked Data

• gnomAD v4: 1-23848657-T-A
• MyVariant Identifiers: chr1:g.24175147T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23848657T>A , CM000663.2:g.23848657T>A	GRCh38
NC_000001.10:g.24175147T>A , CM000663.1:g.24175147T>A	GRCh37
NC_000001.9:g.24047734T>A	NCBI36
NG_013346.1:g.24713A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374479.4:c.1152A>T MANE Select	ENSP00000363603.3:p.Thr384=
ENST00000374479.3:c.1152A>T	ENSP00000363603.3:p.Thr384=
NM_000147.4:c.1152A>T	NP_000138.2:p.Thr384=
XM_005245821.1:c.777A>T	XP_005245878.1:p.Thr259=
XM_011541167.1:c.519A>T	XP_011539469.1:p.Thr173=
XM_005245821.3:c.777A>T	XP_005245878.1:p.Thr259=
XM_011541167.3:c.519A>T	XP_011539469.1:p.Thr173=
XM_017000905.2:c.849A>T	XP_016856394.1:p.Thr283=
NM_000147.5:c.1152A>T MANE Select	NP_000138.2:p.Thr384=
NR_174379.1:n.1330A>T
NR_174380.1:n.1379A>T
NR_174381.1:n.1218A>T
NR_174382.1:n.1615A>T