Canonical Allele Identifier: CA339038269

Gene: FUCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23854359C>A , CM000663.2:g.23854359C>A	GRCh38
NC_000001.10:g.24180849C>A , CM000663.1:g.24180849C>A	GRCh37
NC_000001.9:g.24053436C>A	NCBI36
NG_013346.1:g.19011G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000147.5:c.969+1G>T MANE Select	NP_000138.2:n.969+1G>T
ENST00000374479.4:c.969+1G>T MANE Select	ENSP00000363603.3:n.969+1G>T
NM_000147.4:c.969+1G>T	NP_000138.2:n.969+1G>T
NR_174379.1:n.1147+1G>T
NR_174380.1:n.1196+1G>T
NR_174381.1:n.1035+1G>T
NR_174382.1:n.1432+1G>T
ENST00000374479.3:c.969+1G>T	ENSP00000363603.3:n.969+1G>T
XM_005245821.1:c.594+1G>T	XP_005245878.1:n.594+1G>T
XM_005245821.3:c.594+1G>T	XP_005245878.1:n.594+1G>T
XM_011541167.1:c.336+1G>T	XP_011539469.1:n.336+1G>T
XM_011541167.3:c.336+1G>T	XP_011539469.1:n.336+1G>T
XM_017000905.2:c.666+1G>T	XP_016856394.1:n.666+1G>T