Canonical Allele Identifier: CA19322531

Gene: FUCA1

Linked Data

• dbSNP Id: rs1034382672
• gnomAD v2: 1-24175075-A-G
• gnomAD v3: 1-23848585-A-G
• gnomAD v4: 1-23848585-A-G
• MyVariant Identifiers: chr1:g.24175075A>G (hg19) ; chr1:g.23848585A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23848585A>G , CM000663.2:g.23848585A>G	GRCh38
NC_000001.10:g.24175075A>G , CM000663.1:g.24175075A>G	GRCh37
NC_000001.9:g.24047662A>G	NCBI36
NG_013346.1:g.24785T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374479.4:c.1160+64T>C MANE Select	ENSP00000363603.3:n.1160+64T>C
ENST00000374479.3:c.1160+64T>C	ENSP00000363603.3:n.1160+64T>C
NM_000147.4:c.1160+64T>C	NP_000138.2:n.1160+64T>C
XM_005245821.1:c.785+64T>C	XP_005245878.1:n.785+64T>C
XM_011541167.1:c.527+64T>C	XP_011539469.1:n.527+64T>C
XM_005245821.3:c.785+64T>C	XP_005245878.1:n.785+64T>C
XM_011541167.3:c.527+64T>C	XP_011539469.1:n.527+64T>C
XM_017000905.2:c.857+64T>C	XP_016856394.1:n.857+64T>C
NM_000147.5:c.1160+64T>C MANE Select	NP_000138.2:n.1160+64T>C
NR_174379.1:n.1338+64T>C
NR_174380.1:n.1387+64T>C
NR_174381.1:n.1226+64T>C
NR_174382.1:n.1623+64T>C