Canonical Allele Identifier: CA416626357

Gene: FUCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23845730C>G , CM000663.2:g.23845730C>G	GRCh38
NC_000001.10:g.24172220C>G , CM000663.1:g.24172220C>G	GRCh37
NC_000001.9:g.24044807C>G	NCBI36
NG_013346.1:g.27640G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000147.5:c.1386G>C MANE Select	NP_000138.2:p.Leu462=
ENST00000374479.4:c.1386G>C MANE Select	ENSP00000363603.3:p.Leu462=
NM_000147.4:c.1386G>C	NP_000138.2:p.Leu462=
NR_174379.1:n.1564G>C
NR_174380.1:n.1613G>C
NR_174381.1:n.1452G>C
NR_174382.1:n.1849G>C
ENST00000374479.3:c.1386G>C	ENSP00000363603.3:p.Leu462=
XM_005245821.1:c.1011G>C	XP_005245878.1:p.Leu337=
XM_005245821.3:c.1011G>C	XP_005245878.1:p.Leu337=
XM_011541167.1:c.753G>C	XP_011539469.1:p.Leu251=
XM_011541167.3:c.753G>C	XP_011539469.1:p.Leu251=
XM_017000905.2:c.1083G>C	XP_016856394.1:p.Leu361=