Canonical Allele Identifier: CA339038745

Gene: FUCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23854554C>G , CM000663.2:g.23854554C>G	GRCh38
NC_000001.10:g.24181044C>G , CM000663.1:g.24181044C>G	GRCh37
NC_000001.9:g.24053631C>G	NCBI36
NG_013346.1:g.18816G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000147.5:c.775G>C MANE Select	NP_000138.2:p.Val259Leu
ENST00000374479.4:c.775G>C MANE Select	ENSP00000363603.3:p.Val259Leu
NM_000147.4:c.775G>C	NP_000138.2:p.Val259Leu
NR_174379.1:n.953G>C
NR_174380.1:n.1002G>C
NR_174381.1:n.841G>C
NR_174382.1:n.1238G>C
ENST00000374479.3:c.775G>C	ENSP00000363603.3:p.Val259Leu
XM_005245821.1:c.400G>C	XP_005245878.1:p.Val134Leu
XM_005245821.3:c.400G>C	XP_005245878.1:p.Val134Leu
XM_011541167.1:c.142G>C	XP_011539469.1:p.Val48Leu
XM_011541167.3:c.142G>C	XP_011539469.1:p.Val48Leu
XM_017000905.2:c.472G>C	XP_016856394.1:p.Val158Leu