Canonical Allele Identifier: CA339007429

Gene: FUCA1

Linked Data

• MyVariant Identifiers: chr1:g.24192021G>C (hg19) ; chr1:g.23865531G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23865531G>C , CM000663.2:g.23865531G>C	GRCh38
NC_000001.10:g.24192021G>C , CM000663.1:g.24192021G>C	GRCh37
NC_000001.9:g.24064608G>C	NCBI36
NG_013346.1:g.7839C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374479.4:c.484C>G MANE Select	ENSP00000363603.3:p.Arg162Gly
ENST00000374479.3:c.484C>G	ENSP00000363603.3:p.Arg162Gly
NM_000147.4:c.484C>G	NP_000138.2:p.Arg162Gly
XM_005245821.1:c.109C>G	XP_005245878.1:p.Arg37Gly
XM_011541167.1:c.-150C>G	XP_011539469.1:n.-150C>G
XM_005245821.3:c.109C>G	XP_005245878.1:p.Arg37Gly
XM_011541167.3:c.-150C>G	XP_011539469.1:n.-150C>G
XM_017000905.2:c.181C>G	XP_016856394.1:p.Arg61Gly
NM_000147.5:c.484C>G MANE Select	NP_000138.2:p.Arg162Gly
NR_174379.1:n.662C>G
NR_174380.1:n.711C>G
NR_174381.1:n.550C>G
NR_174382.1:n.947C>G