Canonical Allele Identifier: CA19322522

Gene: FUCA1

Linked Data

• dbSNP Id: rs142928994
• gnomAD v2: 1-24175064-T-C
• gnomAD v3: 1-23848574-T-C
• gnomAD v4: 1-23848574-T-C
• MyVariant Identifiers: chr1:g.24175064T>C (hg19) ; chr1:g.23848574T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23848574T>C , CM000663.2:g.23848574T>C	GRCh38
NC_000001.10:g.24175064T>C , CM000663.1:g.24175064T>C	GRCh37
NC_000001.9:g.24047651T>C	NCBI36
NG_013346.1:g.24796A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374479.4:c.1160+75A>G MANE Select	ENSP00000363603.3:n.1160+75A>G
ENST00000374479.3:c.1160+75A>G	ENSP00000363603.3:n.1160+75A>G
NM_000147.4:c.1160+75A>G	NP_000138.2:n.1160+75A>G
XM_005245821.1:c.785+75A>G	XP_005245878.1:n.785+75A>G
XM_011541167.1:c.527+75A>G	XP_011539469.1:n.527+75A>G
XM_005245821.3:c.785+75A>G	XP_005245878.1:n.785+75A>G
XM_011541167.3:c.527+75A>G	XP_011539469.1:n.527+75A>G
XM_017000905.2:c.857+75A>G	XP_016856394.1:n.857+75A>G
NM_000147.5:c.1160+75A>G MANE Select	NP_000138.2:n.1160+75A>G
NR_174379.1:n.1338+75A>G
NR_174380.1:n.1387+75A>G
NR_174381.1:n.1226+75A>G
NR_174382.1:n.1623+75A>G