Canonical Allele Identifier: CA686339

Gene: FUCA1

Linked Data

• dbSNP Id: rs767887373
• ExAC: 1:24175090 C / T
• gnomAD v2: 1-24175090-C-T
• gnomAD v3: 1-23848600-C-T
• gnomAD v4: 1-23848600-C-T
• MyVariant Identifiers: chr1:g.24175090C>T (hg19) ; chr1:g.23848600C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23848600C>T , CM000663.2:g.23848600C>T	GRCh38
NC_000001.10:g.24175090C>T , CM000663.1:g.24175090C>T	GRCh37
NC_000001.9:g.24047677C>T	NCBI36
NG_013346.1:g.24770G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000374479.4:c.1160+49G>A MANE Select	ENSP00000363603.3:n.1160+49G>A
ENST00000374479.3:c.1160+49G>A	ENSP00000363603.3:n.1160+49G>A
NM_000147.4:c.1160+49G>A	NP_000138.2:n.1160+49G>A
XM_005245821.1:c.785+49G>A	XP_005245878.1:n.785+49G>A
XM_011541167.1:c.527+49G>A	XP_011539469.1:n.527+49G>A
XM_005245821.3:c.785+49G>A	XP_005245878.1:n.785+49G>A
XM_011541167.3:c.527+49G>A	XP_011539469.1:n.527+49G>A
XM_017000905.2:c.857+49G>A	XP_016856394.1:n.857+49G>A
NM_000147.5:c.1160+49G>A MANE Select	NP_000138.2:n.1160+49G>A
NR_174379.1:n.1338+49G>A
NR_174380.1:n.1387+49G>A
NR_174381.1:n.1226+49G>A
NR_174382.1:n.1623+49G>A