Canonical Allele Identifier: CA416626828

Gene: FUCA1

Linked Data

• dbSNP Id: rs1639195467
• gnomAD v3: 1-23848744-A-C
• gnomAD v4: 1-23848744-A-C
• MyVariant Identifiers: chr1:g.24175234A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23848744A>C , CM000663.2:g.23848744A>C	GRCh38
NC_000001.10:g.24175234A>C , CM000663.1:g.24175234A>C	GRCh37
NC_000001.9:g.24047821A>C	NCBI36
NG_013346.1:g.24626T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374479.4:c.1065T>G MANE Select	ENSP00000363603.3:p.Leu355=
ENST00000374479.3:c.1065T>G	ENSP00000363603.3:p.Leu355=
NM_000147.4:c.1065T>G	NP_000138.2:p.Leu355=
XM_005245821.1:c.690T>G	XP_005245878.1:p.Leu230=
XM_011541167.1:c.432T>G	XP_011539469.1:p.Leu144=
XM_005245821.3:c.690T>G	XP_005245878.1:p.Leu230=
XM_011541167.3:c.432T>G	XP_011539469.1:p.Leu144=
XM_017000905.2:c.762T>G	XP_016856394.1:p.Leu254=
NM_000147.5:c.1065T>G MANE Select	NP_000138.2:p.Leu355=
NR_174379.1:n.1243T>G
NR_174380.1:n.1292T>G
NR_174381.1:n.1131T>G
NR_174382.1:n.1528T>G