Canonical Allele Identifier: CA339035998

Gene: FUCA1

Linked Data

• MyVariant Identifiers: chr1:g.24175172C>G (hg19) ; chr1:g.23848682C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23848682C>G , CM000663.2:g.23848682C>G	GRCh38
NC_000001.10:g.24175172C>G , CM000663.1:g.24175172C>G	GRCh37
NC_000001.9:g.24047759C>G	NCBI36
NG_013346.1:g.24688G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374479.4:c.1127G>C MANE Select	ENSP00000363603.3:p.Arg376Pro
ENST00000374479.3:c.1127G>C	ENSP00000363603.3:p.Arg376Pro
NM_000147.4:c.1127G>C	NP_000138.2:p.Arg376Pro
XM_005245821.1:c.752G>C	XP_005245878.1:p.Arg251Pro
XM_011541167.1:c.494G>C	XP_011539469.1:p.Arg165Pro
XM_005245821.3:c.752G>C	XP_005245878.1:p.Arg251Pro
XM_011541167.3:c.494G>C	XP_011539469.1:p.Arg165Pro
XM_017000905.2:c.824G>C	XP_016856394.1:p.Arg275Pro
NM_000147.5:c.1127G>C MANE Select	NP_000138.2:p.Arg376Pro
NR_174379.1:n.1305G>C
NR_174380.1:n.1354G>C
NR_174381.1:n.1193G>C
NR_174382.1:n.1590G>C