Canonical Allele Identifier: CA686536

Gene: FUCA1

Linked Data

• ClinVar Variation Id: 2740826
• ClinVar RCV Id: RCV003494891
• dbSNP Id: rs768657814
• ExAC: 1:24192034 G / A
• gnomAD v2: 1-24192034-G-A
• gnomAD v3: 1-23865544-G-A
• gnomAD v4: 1-23865544-G-A
• MyVariant Identifiers: chr1:g.24192034G>A (hg19) ; chr1:g.23865544G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23865544G>A , CM000663.2:g.23865544G>A	GRCh38
NC_000001.10:g.24192034G>A , CM000663.1:g.24192034G>A	GRCh37
NC_000001.9:g.24064621G>A	NCBI36
NG_013346.1:g.7826C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374479.4:c.471C>T MANE Select	ENSP00000363603.3:p.Asp157=
ENST00000374479.3:c.471C>T	ENSP00000363603.3:p.Asp157=
NM_000147.4:c.471C>T	NP_000138.2:p.Asp157=
XM_005245821.1:c.96C>T	XP_005245878.1:p.Asp32=
XM_011541167.1:c.-163C>T	XP_011539469.1:n.-163C>T
XM_005245821.3:c.96C>T	XP_005245878.1:p.Asp32=
XM_011541167.3:c.-163C>T	XP_011539469.1:n.-163C>T
XM_017000905.2:c.168C>T	XP_016856394.1:p.Asp56=
NM_000147.5:c.471C>T MANE Select	NP_000138.2:p.Asp157=
NR_174379.1:n.649C>T
NR_174380.1:n.698C>T
NR_174381.1:n.537C>T
NR_174382.1:n.934C>T