Canonical Allele Identifier: CA733355857

Gene: FUCA1

Linked Data

• dbSNP Id: rs1415922197
• gnomAD v3: 1-23848597-T-G
• gnomAD v4: 1-23848597-T-G
• MyVariant Identifiers: chr1:g.24175087T>G (hg19) ; chr1:g.23848597T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23848597T>G , CM000663.2:g.23848597T>G	GRCh38
NC_000001.10:g.24175087T>G , CM000663.1:g.24175087T>G	GRCh37
NC_000001.9:g.24047674T>G	NCBI36
NG_013346.1:g.24773A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374479.4:c.1160+52A>C MANE Select	ENSP00000363603.3:n.1160+52A>C
ENST00000374479.3:c.1160+52A>C	ENSP00000363603.3:n.1160+52A>C
NM_000147.4:c.1160+52A>C	NP_000138.2:n.1160+52A>C
XM_005245821.1:c.785+52A>C	XP_005245878.1:n.785+52A>C
XM_011541167.1:c.527+52A>C	XP_011539469.1:n.527+52A>C
XM_005245821.3:c.785+52A>C	XP_005245878.1:n.785+52A>C
XM_011541167.3:c.527+52A>C	XP_011539469.1:n.527+52A>C
XM_017000905.2:c.857+52A>C	XP_016856394.1:n.857+52A>C
NM_000147.5:c.1160+52A>C MANE Select	NP_000138.2:n.1160+52A>C
NR_174379.1:n.1338+52A>C
NR_174380.1:n.1387+52A>C
NR_174381.1:n.1226+52A>C
NR_174382.1:n.1623+52A>C