Canonical Allele Identifier: CA686340

Gene: FUCA1

Linked Data

• dbSNP Id: rs376349096
• ExAC: 1:24175091 G / A
• gnomAD v2: 1-24175091-G-A
• gnomAD v3: 1-23848601-G-A
• gnomAD v4: 1-23848601-G-A
• MyVariant Identifiers: chr1:g.24175091G>A (hg19) ; chr1:g.23848601G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23848601G>A , CM000663.2:g.23848601G>A	GRCh38
NC_000001.10:g.24175091G>A , CM000663.1:g.24175091G>A	GRCh37
NC_000001.9:g.24047678G>A	NCBI36
NG_013346.1:g.24769C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374479.4:c.1160+48C>T MANE Select	ENSP00000363603.3:n.1160+48C>T
ENST00000374479.3:c.1160+48C>T	ENSP00000363603.3:n.1160+48C>T
NM_000147.4:c.1160+48C>T	NP_000138.2:n.1160+48C>T
XM_005245821.1:c.785+48C>T	XP_005245878.1:n.785+48C>T
XM_011541167.1:c.527+48C>T	XP_011539469.1:n.527+48C>T
XM_005245821.3:c.785+48C>T	XP_005245878.1:n.785+48C>T
XM_011541167.3:c.527+48C>T	XP_011539469.1:n.527+48C>T
XM_017000905.2:c.857+48C>T	XP_016856394.1:n.857+48C>T
NM_000147.5:c.1160+48C>T MANE Select	NP_000138.2:n.1160+48C>T
NR_174379.1:n.1338+48C>T
NR_174380.1:n.1387+48C>T
NR_174381.1:n.1226+48C>T
NR_174382.1:n.1623+48C>T