Canonical Allele Identifier: CA686553

Gene: FUCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23865613C>G , CM000663.2:g.23865613C>G	GRCh38
NC_000001.10:g.24192103C>G , CM000663.1:g.24192103C>G	GRCh37
NC_000001.9:g.24064690C>G	NCBI36
NG_013346.1:g.7757G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000147.5:c.402G>C MANE Select	NP_000138.2:p.Leu134Phe
ENST00000374479.4:c.402G>C MANE Select	ENSP00000363603.3:p.Leu134Phe
NM_000147.4:c.402G>C	NP_000138.2:p.Leu134Phe
NR_174379.1:n.580G>C
NR_174380.1:n.629G>C
NR_174381.1:n.468G>C
NR_174382.1:n.865G>C
ENST00000374479.3:c.402G>C	ENSP00000363603.3:p.Leu134Phe
XM_005245821.1:c.27G>C	XP_005245878.1:p.Leu9Phe
XM_005245821.3:c.27G>C	XP_005245878.1:p.Leu9Phe
XM_011541167.1:c.-232G>C	XP_011539469.1:n.-232G>C
XM_011541167.3:c.-232G>C	XP_011539469.1:n.-232G>C
XM_017000905.2:c.99G>C	XP_016856394.1:p.Leu33Phe