Canonical Allele Identifier: CA686377

Gene: FUCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23848793A>G , CM000663.2:g.23848793A>G	GRCh38
NC_000001.10:g.24175283A>G , CM000663.1:g.24175283A>G	GRCh37
NC_000001.9:g.24047870A>G	NCBI36
NG_013346.1:g.24577T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000147.5:c.1016T>C MANE Select	NP_000138.2:p.Ile339Thr
ENST00000374479.4:c.1016T>C MANE Select	ENSP00000363603.3:p.Ile339Thr
NM_000147.4:c.1016T>C	NP_000138.2:p.Ile339Thr
NR_174379.1:n.1194T>C
NR_174380.1:n.1243T>C
NR_174381.1:n.1082T>C
NR_174382.1:n.1479T>C
ENST00000374479.3:c.1016T>C	ENSP00000363603.3:p.Ile339Thr
XM_005245821.1:c.641T>C	XP_005245878.1:p.Ile214Thr
XM_005245821.3:c.641T>C	XP_005245878.1:p.Ile214Thr
XM_011541167.1:c.383T>C	XP_011539469.1:p.Ile128Thr
XM_011541167.3:c.383T>C	XP_011539469.1:p.Ile128Thr
XM_017000905.2:c.713T>C	XP_016856394.1:p.Ile238Thr