Canonical Allele Identifier: CA416626460

Gene: FUCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23845796G>C , CM000663.2:g.23845796G>C	GRCh38
NC_000001.10:g.24172286G>C , CM000663.1:g.24172286G>C	GRCh37
NC_000001.9:g.24044873G>C	NCBI36
NG_013346.1:g.27574C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374479.4:c.1320C>G MANE Select	ENSP00000363603.3:p.Leu440=
ENST00000374479.3:c.1320C>G	ENSP00000363603.3:p.Leu440=
NM_000147.4:c.1320C>G	NP_000138.2:p.Leu440=
XM_005245821.1:c.945C>G	XP_005245878.1:p.Leu315=
XM_011541167.1:c.687C>G	XP_011539469.1:p.Leu229=
XM_005245821.3:c.945C>G	XP_005245878.1:p.Leu315=
XM_011541167.3:c.687C>G	XP_011539469.1:p.Leu229=
XM_017000905.2:c.1017C>G	XP_016856394.1:p.Leu339=
NM_000147.5:c.1320C>G MANE Select	NP_000138.2:p.Leu440=
NR_174379.1:n.1498C>G
NR_174380.1:n.1547C>G
NR_174381.1:n.1386C>G
NR_174382.1:n.1783C>G